SNP Links for Protein (Select 374671754) - SNP

Links from Protein

Items: 1 to 20 of 263

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Select item 14866917941.

rs1486691794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:86066777 (GRCh38)
3:86115927 (GRCh37)
Canonical SPDI:: NC_000003.12:86066776:C:T
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.86066777C>T, NC_000003.11:g.86115927C>T, NM_153184.4:c.1308C>T, NM_153184.3:c.1308C>T, XM_017006062.3:c.1344C>T, XM_017006062.2:c.1344C>T, XM_017006062.1:c.1344C>T, XM_017006063.3:c.1188C>T, XM_017006063.2:c.1188C>T, XM_017006063.1:c.1188C>T, NM_001167674.2:c.1302C>T, NM_001167674.1:c.1302C>T, NM_001256502.2:c.978C>T, NM_001256502.1:c.978C>T, NM_001167675.2:c.1209C>T, NM_001167675.1:c.1209C>T, NM_001256504.2:c.858C>T, NM_001256504.1:c.858C>T, NM_001256505.2:c.858C>T, NM_001256505.1:c.858C>T, NM_001256503.2:c.978C>T, NM_001256503.1:c.978C>T, NM_001375960.1:c.1329C>T, NM_001375961.1:c.1161C>T, NM_001381964.1:c.1302C>T, NM_001381963.1:c.1182C>T, NM_001375964.1:c.1071C>T, NM_001375967.1:c.1059C>T, NM_001375968.1:c.918C>T

Select item 14816042832.

rs1481604283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:85961470 (GRCh38)
3:86010620 (GRCh37)
Canonical SPDI:: NC_000003.12:85961469:C:G
Gene:: CADM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.85961470C>G, NC_000003.11:g.86010620C>G, NM_153184.4:c.772C>G, NM_153184.3:c.772C>G, XM_017006062.3:c.808C>G, XM_017006062.2:c.808C>G, XM_017006062.1:c.808C>G, XM_017006063.3:c.772C>G, XM_017006063.2:c.772C>G, XM_017006063.1:c.772C>G, NM_001167674.2:c.766C>G, NM_001167674.1:c.766C>G, NM_001256502.2:c.442C>G, NM_001256502.1:c.442C>G, NM_001167675.2:c.793C>G, NM_001167675.1:c.793C>G, NM_001256504.2:c.442C>G, NM_001256504.1:c.442C>G, NM_001256505.2:c.442C>G, NM_001256505.1:c.442C>G, NM_001256503.2:c.442C>G, NM_001256503.1:c.442C>G, NM_001375960.1:c.793C>G, NM_001375961.1:c.745C>G, NM_001381964.1:c.766C>G, NM_001381963.1:c.766C>G, NM_001375964.1:c.655C>G, NM_001375967.1:c.643C>G, NM_001375968.1:c.502C>G, XM_047447872.1:c.766C>G, NP_694854.2:p.Pro258Ala, XP_016861551.1:p.Pro270Ala, XP_016861552.1:p.Pro258Ala, NP_001161146.1:p.Pro256Ala, NP_001243431.1:p.Pro148Ala, NP_001161147.1:p.Pro265Ala, NP_001243433.1:p.Pro148Ala, NP_001243434.1:p.Pro148Ala, NP_001243432.1:p.Pro148Ala, NP_001362889.1:p.Pro265Ala, NP_001362890.1:p.Pro249Ala, NP_001368893.1:p.Pro256Ala, NP_001368892.1:p.Pro256Ala, NP_001362893.1:p.Pro219Ala, NP_001362896.1:p.Pro215Ala, NP_001362897.1:p.Pro168Ala, XP_047303828.1:p.Pro256Ala

Select item 14731610983.

rs1473161098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:85979176 (GRCh38)
3:86028326 (GRCh37)
Canonical SPDI:: NC_000003.12:85979175:C:T
Gene:: CADM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.85979176C>T, NC_000003.11:g.86028326C>T, NM_153184.4:c.962C>T, NM_153184.3:c.962C>T, XM_017006062.3:c.998C>T, XM_017006062.2:c.998C>T, XM_017006062.1:c.998C>T, NM_001167674.2:c.956C>T, NM_001167674.1:c.956C>T, NM_001256502.2:c.632C>T, NM_001256502.1:c.632C>T, NM_001256503.2:c.632C>T, NM_001256503.1:c.632C>T, NM_001375960.1:c.983C>T, NM_001381964.1:c.956C>T, XM_047447872.1:c.956C>T, NP_694854.2:p.Thr321Ile, XP_016861551.1:p.Thr333Ile, NP_001161146.1:p.Thr319Ile, NP_001243431.1:p.Thr211Ile, NP_001243432.1:p.Thr211Ile, NP_001362889.1:p.Thr328Ile, NP_001368893.1:p.Thr319Ile, XP_047303828.1:p.Thr319Ile

Select item 14678090744.

rs1467809074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:85886214 (GRCh38)
3:85935364 (GRCh37)
Canonical SPDI:: NC_000003.12:85886213:G:T
Gene:: CADM2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.85886214G>T, NC_000003.11:g.85935364G>T, NM_153184.4:c.395G>T, NM_153184.3:c.395G>T, XM_017006062.3:c.431G>T, XM_017006062.2:c.431G>T, XM_017006062.1:c.431G>T, XM_017006063.3:c.395G>T, XM_017006063.2:c.395G>T, XM_017006063.1:c.395G>T, NM_001167674.2:c.389G>T, NM_001167674.1:c.389G>T, NM_001256502.2:c.65G>T, NM_001256502.1:c.65G>T, NM_001167675.2:c.416G>T, NM_001167675.1:c.416G>T, NM_001256504.2:c.65G>T, NM_001256504.1:c.65G>T, NM_001256505.2:c.65G>T, NM_001256505.1:c.65G>T, NM_001256503.2:c.65G>T, NM_001256503.1:c.65G>T, NM_001375960.1:c.416G>T, NM_001375961.1:c.368G>T, NM_001381964.1:c.389G>T, NM_001381963.1:c.389G>T, NM_001375967.1:c.266G>T, XM_047447872.1:c.389G>T, NP_694854.2:p.Ser132Ile, XP_016861551.1:p.Ser144Ile, XP_016861552.1:p.Ser132Ile, NP_001161146.1:p.Ser130Ile, NP_001243431.1:p.Ser22Ile, NP_001161147.1:p.Ser139Ile, NP_001243433.1:p.Ser22Ile, NP_001243434.1:p.Ser22Ile, NP_001243432.1:p.Ser22Ile, NP_001362889.1:p.Ser139Ile, NP_001362890.1:p.Ser123Ile, NP_001368893.1:p.Ser130Ile, NP_001368892.1:p.Ser130Ile, NP_001362896.1:p.Ser89Ile, XP_047303828.1:p.Ser130Ile

Select item 14622842745.

rs1462284274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:85961641 (GRCh38)
3:86010791 (GRCh37)
Canonical SPDI:: NC_000003.12:85961640:G:A
Gene:: CADM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.85961641G>A, NC_000003.11:g.86010791G>A, NM_153184.4:c.943G>A, NM_153184.3:c.943G>A, XM_017006062.3:c.979G>A, XM_017006062.2:c.979G>A, XM_017006062.1:c.979G>A, XM_017006063.3:c.943G>A, XM_017006063.2:c.943G>A, XM_017006063.1:c.943G>A, NM_001167674.2:c.937G>A, NM_001167674.1:c.937G>A, NM_001256502.2:c.613G>A, NM_001256502.1:c.613G>A, NM_001167675.2:c.964G>A, NM_001167675.1:c.964G>A, NM_001256504.2:c.613G>A, NM_001256504.1:c.613G>A, NM_001256505.2:c.613G>A, NM_001256505.1:c.613G>A, NM_001256503.2:c.613G>A, NM_001256503.1:c.613G>A, NM_001375960.1:c.964G>A, NM_001375961.1:c.916G>A, NM_001381964.1:c.937G>A, NM_001381963.1:c.937G>A, NM_001375964.1:c.826G>A, NM_001375967.1:c.814G>A, NM_001375968.1:c.673G>A, XM_047447872.1:c.937G>A, NP_694854.2:p.Val315Met, XP_016861551.1:p.Val327Met, XP_016861552.1:p.Val315Met, NP_001161146.1:p.Val313Met, NP_001243431.1:p.Val205Met, NP_001161147.1:p.Val322Met, NP_001243433.1:p.Val205Met, NP_001243434.1:p.Val205Met, NP_001243432.1:p.Val205Met, NP_001362889.1:p.Val322Met, NP_001362890.1:p.Val306Met, NP_001368893.1:p.Val313Met, NP_001368892.1:p.Val313Met, NP_001362893.1:p.Val276Met, NP_001362896.1:p.Val272Met, NP_001362897.1:p.Val225Met, XP_047303828.1:p.Val313Met

Select item 14555879356.

rs1455587935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:85961556 (GRCh38)
3:86010706 (GRCh37)
Canonical SPDI:: NC_000003.12:85961555:T:C
Gene:: CADM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.85961556T>C, NC_000003.11:g.86010706T>C, NM_153184.4:c.858T>C, NM_153184.3:c.858T>C, XM_017006062.3:c.894T>C, XM_017006062.2:c.894T>C, XM_017006062.1:c.894T>C, XM_017006063.3:c.858T>C, XM_017006063.2:c.858T>C, XM_017006063.1:c.858T>C, NM_001167674.2:c.852T>C, NM_001167674.1:c.852T>C, NM_001256502.2:c.528T>C, NM_001256502.1:c.528T>C, NM_001167675.2:c.879T>C, NM_001167675.1:c.879T>C, NM_001256504.2:c.528T>C, NM_001256504.1:c.528T>C, NM_001256505.2:c.528T>C, NM_001256505.1:c.528T>C, NM_001256503.2:c.528T>C, NM_001256503.1:c.528T>C, NM_001375960.1:c.879T>C, NM_001375961.1:c.831T>C, NM_001381964.1:c.852T>C, NM_001381963.1:c.852T>C, NM_001375964.1:c.741T>C, NM_001375967.1:c.729T>C, NM_001375968.1:c.588T>C, XM_047447872.1:c.852T>C

Select item 14407167447.

rs1440716744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:85886318 (GRCh38)
3:85935468 (GRCh37)
Canonical SPDI:: NC_000003.12:85886317:G:C
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.85886318G>C, NC_000003.11:g.85935468G>C, NM_153184.4:c.499G>C, NM_153184.3:c.499G>C, XM_017006062.3:c.535G>C, XM_017006062.2:c.535G>C, XM_017006062.1:c.535G>C, XM_017006063.3:c.499G>C, XM_017006063.2:c.499G>C, XM_017006063.1:c.499G>C, NM_001167674.2:c.493G>C, NM_001167674.1:c.493G>C, NM_001256502.2:c.169G>C, NM_001256502.1:c.169G>C, NM_001167675.2:c.520G>C, NM_001167675.1:c.520G>C, NM_001256504.2:c.169G>C, NM_001256504.1:c.169G>C, NM_001256505.2:c.169G>C, NM_001256505.1:c.169G>C, NM_001256503.2:c.169G>C, NM_001256503.1:c.169G>C, NM_001375960.1:c.520G>C, NM_001375961.1:c.472G>C, NM_001381964.1:c.493G>C, NM_001381963.1:c.493G>C, NM_001375967.1:c.370G>C, XM_047447872.1:c.493G>C, NP_694854.2:p.Glu167Gln, XP_016861551.1:p.Glu179Gln, XP_016861552.1:p.Glu167Gln, NP_001161146.1:p.Glu165Gln, NP_001243431.1:p.Glu57Gln, NP_001161147.1:p.Glu174Gln, NP_001243433.1:p.Glu57Gln, NP_001243434.1:p.Glu57Gln, NP_001243432.1:p.Glu57Gln, NP_001362889.1:p.Glu174Gln, NP_001362890.1:p.Glu158Gln, NP_001368893.1:p.Glu165Gln, NP_001368892.1:p.Glu165Gln, NP_001362896.1:p.Glu124Gln, XP_047303828.1:p.Glu165Gln

Select item 14340736828.

rs1434073682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:85883410 (GRCh38)
3:85932560 (GRCh37)
Canonical SPDI:: NC_000003.12:85883409:G:A
Gene:: CADM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.85883410G>A, NC_000003.11:g.85932560G>A, NM_153184.4:c.337G>A, NM_153184.3:c.337G>A, XM_017006062.3:c.373G>A, XM_017006062.2:c.373G>A, XM_017006062.1:c.373G>A, XM_017006063.3:c.337G>A, XM_017006063.2:c.337G>A, XM_017006063.1:c.337G>A, NM_001167674.2:c.331G>A, NM_001167674.1:c.331G>A, NM_001256502.2:c.7G>A, NM_001256502.1:c.7G>A, NM_001167675.2:c.358G>A, NM_001167675.1:c.358G>A, NM_001256504.2:c.7G>A, NM_001256504.1:c.7G>A, NM_001256505.2:c.7G>A, NM_001256505.1:c.7G>A, NM_001256503.2:c.7G>A, NM_001256503.1:c.7G>A, NM_001375960.1:c.358G>A, NM_001375961.1:c.310G>A, NM_001381964.1:c.331G>A, NM_001381963.1:c.331G>A, NM_001375964.1:c.358G>A, NM_001375967.1:c.208G>A, XM_047447872.1:c.331G>A, NP_694854.2:p.Val113Ile, XP_016861551.1:p.Val125Ile, XP_016861552.1:p.Val113Ile, NP_001161146.1:p.Val111Ile, NP_001243431.1:p.Val3Ile, NP_001161147.1:p.Val120Ile, NP_001243433.1:p.Val3Ile, NP_001243434.1:p.Val3Ile, NP_001243432.1:p.Val3Ile, NP_001362889.1:p.Val120Ile, NP_001362890.1:p.Val104Ile, NP_001368893.1:p.Val111Ile, NP_001368892.1:p.Val111Ile, NP_001362893.1:p.Val120Ile, NP_001362896.1:p.Val70Ile, XP_047303828.1:p.Val111Ile

Select item 14297639329.

rs1429763932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:85912444 (GRCh38)
3:85961594 (GRCh37)
Canonical SPDI:: NC_000003.12:85912443:G:A
Gene:: CADM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.85912444G>A, NC_000003.11:g.85961594G>A, NM_153184.4:c.580G>A, NM_153184.3:c.580G>A, XM_017006062.3:c.616G>A, XM_017006062.2:c.616G>A, XM_017006062.1:c.616G>A, XM_017006063.3:c.580G>A, XM_017006063.2:c.580G>A, XM_017006063.1:c.580G>A, NM_001167674.2:c.574G>A, NM_001167674.1:c.574G>A, NM_001256502.2:c.250G>A, NM_001256502.1:c.250G>A, NM_001167675.2:c.601G>A, NM_001167675.1:c.601G>A, NM_001256504.2:c.250G>A, NM_001256504.1:c.250G>A, NM_001256505.2:c.250G>A, NM_001256505.1:c.250G>A, NM_001256503.2:c.250G>A, NM_001256503.1:c.250G>A, NM_001375960.1:c.601G>A, NM_001375961.1:c.553G>A, NM_001381964.1:c.574G>A, NM_001381963.1:c.574G>A, NM_001375964.1:c.463G>A, NM_001375967.1:c.451G>A, NM_001375968.1:c.310G>A, XM_047447872.1:c.574G>A, NP_694854.2:p.Val194Met, XP_016861551.1:p.Val206Met, XP_016861552.1:p.Val194Met, NP_001161146.1:p.Val192Met, NP_001243431.1:p.Val84Met, NP_001161147.1:p.Val201Met, NP_001243433.1:p.Val84Met, NP_001243434.1:p.Val84Met, NP_001243432.1:p.Val84Met, NP_001362889.1:p.Val201Met, NP_001362890.1:p.Val185Met, NP_001368893.1:p.Val192Met, NP_001368892.1:p.Val192Met, NP_001362893.1:p.Val155Met, NP_001362896.1:p.Val151Met, NP_001362897.1:p.Val104Met, XP_047303828.1:p.Val192Met

Select item 142863907110.

rs1428639071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:85912512 (GRCh38)
3:85961662 (GRCh37)
Canonical SPDI:: NC_000003.12:85912511:T:C,NC_000003.12:85912511:T:G
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.85912512T>C, NC_000003.12:g.85912512T>G, NC_000003.11:g.85961662T>C, NC_000003.11:g.85961662T>G, NM_153184.4:c.648T>C, NM_153184.4:c.648T>G, NM_153184.3:c.648T>C, NM_153184.3:c.648T>G, XM_017006062.3:c.684T>C, XM_017006062.3:c.684T>G, XM_017006062.2:c.684T>C, XM_017006062.2:c.684T>G, XM_017006062.1:c.684T>C, XM_017006062.1:c.684T>G, XM_017006063.3:c.648T>C, XM_017006063.3:c.648T>G, XM_017006063.2:c.648T>C, XM_017006063.2:c.648T>G, XM_017006063.1:c.648T>C, XM_017006063.1:c.648T>G, NM_001167674.2:c.642T>C, NM_001167674.2:c.642T>G, NM_001167674.1:c.642T>C, NM_001167674.1:c.642T>G, NM_001256502.2:c.318T>C, NM_001256502.2:c.318T>G, NM_001256502.1:c.318T>C, NM_001256502.1:c.318T>G, NM_001167675.2:c.669T>C, NM_001167675.2:c.669T>G, NM_001167675.1:c.669T>C, NM_001167675.1:c.669T>G, NM_001256504.2:c.318T>C, NM_001256504.2:c.318T>G, NM_001256504.1:c.318T>C, NM_001256504.1:c.318T>G, NM_001256505.2:c.318T>C, NM_001256505.2:c.318T>G, NM_001256505.1:c.318T>C, NM_001256505.1:c.318T>G, NM_001256503.2:c.318T>C, NM_001256503.2:c.318T>G, NM_001256503.1:c.318T>C, NM_001256503.1:c.318T>G, NM_001375960.1:c.669T>C, NM_001375960.1:c.669T>G, NM_001375961.1:c.621T>C, NM_001375961.1:c.621T>G, NM_001381964.1:c.642T>C, NM_001381964.1:c.642T>G, NM_001381963.1:c.642T>C, NM_001381963.1:c.642T>G, NM_001375964.1:c.531T>C, NM_001375964.1:c.531T>G, NM_001375967.1:c.519T>C, NM_001375967.1:c.519T>G, NM_001375968.1:c.378T>C, NM_001375968.1:c.378T>G, XM_047447872.1:c.642T>C, XM_047447872.1:c.642T>G

Select item 141956022311.

rs1419560223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:85935801 (GRCh38)
3:85984951 (GRCh37)
Canonical SPDI:: NC_000003.12:85935800:T:A
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.85935801T>A, NC_000003.11:g.85984951T>A, NM_153184.4:c.714T>A, NM_153184.3:c.714T>A, XM_017006062.3:c.750T>A, XM_017006062.2:c.750T>A, XM_017006062.1:c.750T>A, XM_017006063.3:c.714T>A, XM_017006063.2:c.714T>A, XM_017006063.1:c.714T>A, NM_001167674.2:c.708T>A, NM_001167674.1:c.708T>A, NM_001256502.2:c.384T>A, NM_001256502.1:c.384T>A, NM_001167675.2:c.735T>A, NM_001167675.1:c.735T>A, NM_001256504.2:c.384T>A, NM_001256504.1:c.384T>A, NM_001256505.2:c.384T>A, NM_001256505.1:c.384T>A, NM_001256503.2:c.384T>A, NM_001256503.1:c.384T>A, NM_001375960.1:c.735T>A, NM_001375961.1:c.687T>A, NM_001381964.1:c.708T>A, NM_001381963.1:c.708T>A, NM_001375964.1:c.597T>A, NM_001375967.1:c.585T>A, NM_001375968.1:c.444T>A, XM_047447872.1:c.708T>A

Select item 141669383812.

rs1416693838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:85912406 (GRCh38)
3:85961556 (GRCh37)
Canonical SPDI:: NC_000003.12:85912405:G:A,NC_000003.12:85912405:G:T
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.85912406G>A, NC_000003.12:g.85912406G>T, NC_000003.11:g.85961556G>A, NC_000003.11:g.85961556G>T, NM_153184.4:c.542G>A, NM_153184.4:c.542G>T, NM_153184.3:c.542G>A, NM_153184.3:c.542G>T, XM_017006062.3:c.578G>A, XM_017006062.3:c.578G>T, XM_017006062.2:c.578G>A, XM_017006062.2:c.578G>T, XM_017006062.1:c.578G>A, XM_017006062.1:c.578G>T, XM_017006063.3:c.542G>A, XM_017006063.3:c.542G>T, XM_017006063.2:c.542G>A, XM_017006063.2:c.542G>T, XM_017006063.1:c.542G>A, XM_017006063.1:c.542G>T, NM_001167674.2:c.536G>A, NM_001167674.2:c.536G>T, NM_001167674.1:c.536G>A, NM_001167674.1:c.536G>T, NM_001256502.2:c.212G>A, NM_001256502.2:c.212G>T, NM_001256502.1:c.212G>A, NM_001256502.1:c.212G>T, NM_001167675.2:c.563G>A, NM_001167675.2:c.563G>T, NM_001167675.1:c.563G>A, NM_001167675.1:c.563G>T, NM_001256504.2:c.212G>A, NM_001256504.2:c.212G>T, NM_001256504.1:c.212G>A, NM_001256504.1:c.212G>T, NM_001256505.2:c.212G>A, NM_001256505.2:c.212G>T, NM_001256505.1:c.212G>A, NM_001256505.1:c.212G>T, NM_001256503.2:c.212G>A, NM_001256503.2:c.212G>T, NM_001256503.1:c.212G>A, NM_001256503.1:c.212G>T, NM_001375960.1:c.563G>A, NM_001375960.1:c.563G>T, NM_001375961.1:c.515G>A, NM_001375961.1:c.515G>T, NM_001381964.1:c.536G>A, NM_001381964.1:c.536G>T, NM_001381963.1:c.536G>A, NM_001381963.1:c.536G>T, NM_001375964.1:c.425G>A, NM_001375964.1:c.425G>T, NM_001375967.1:c.413G>A, NM_001375967.1:c.413G>T, NM_001375968.1:c.272G>A, NM_001375968.1:c.272G>T, XM_047447872.1:c.536G>A, XM_047447872.1:c.536G>T, NP_694854.2:p.Arg181His, NP_694854.2:p.Arg181Leu, XP_016861551.1:p.Arg193His, XP_016861551.1:p.Arg193Leu, XP_016861552.1:p.Arg181His, XP_016861552.1:p.Arg181Leu, NP_001161146.1:p.Arg179His, NP_001161146.1:p.Arg179Leu, NP_001243431.1:p.Arg71His, NP_001243431.1:p.Arg71Leu, NP_001161147.1:p.Arg188His, NP_001161147.1:p.Arg188Leu, NP_001243433.1:p.Arg71His, NP_001243433.1:p.Arg71Leu, NP_001243434.1:p.Arg71His, NP_001243434.1:p.Arg71Leu, NP_001243432.1:p.Arg71His, NP_001243432.1:p.Arg71Leu, NP_001362889.1:p.Arg188His, NP_001362889.1:p.Arg188Leu, NP_001362890.1:p.Arg172His, NP_001362890.1:p.Arg172Leu, NP_001368893.1:p.Arg179His, NP_001368893.1:p.Arg179Leu, NP_001368892.1:p.Arg179His, NP_001368892.1:p.Arg179Leu, NP_001362893.1:p.Arg142His, NP_001362893.1:p.Arg142Leu, NP_001362896.1:p.Arg138His, NP_001362896.1:p.Arg138Leu, NP_001362897.1:p.Arg91His, NP_001362897.1:p.Arg91Leu, XP_047303828.1:p.Arg179His, XP_047303828.1:p.Arg179Leu

Select item 140876070613.

rs1408760706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:85979226 (GRCh38)
3:86028376 (GRCh37)
Canonical SPDI:: NC_000003.12:85979225:A:G
Gene:: CADM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.85979226A>G, NC_000003.11:g.86028376A>G, NM_153184.4:c.1012A>G, NM_153184.3:c.1012A>G, XM_017006062.3:c.1048A>G, XM_017006062.2:c.1048A>G, XM_017006062.1:c.1048A>G, NM_001167674.2:c.1006A>G, NM_001167674.1:c.1006A>G, NM_001256502.2:c.682A>G, NM_001256502.1:c.682A>G, NM_001256503.2:c.682A>G, NM_001256503.1:c.682A>G, NM_001375960.1:c.1033A>G, NM_001381964.1:c.1006A>G, XM_047447872.1:c.1006A>G, NP_694854.2:p.Thr338Ala, XP_016861551.1:p.Thr350Ala, NP_001161146.1:p.Thr336Ala, NP_001243431.1:p.Thr228Ala, NP_001243432.1:p.Thr228Ala, NP_001362889.1:p.Thr345Ala, NP_001368893.1:p.Thr336Ala, XP_047303828.1:p.Thr336Ala

Select item 140399888014.

rs1403998880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:85961595 (GRCh38)
3:86010745 (GRCh37)
Canonical SPDI:: NC_000003.12:85961594:A:C
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000003.12:g.85961595A>C, NC_000003.11:g.86010745A>C, NM_153184.4:c.897A>C, NM_153184.3:c.897A>C, XM_017006062.3:c.933A>C, XM_017006062.2:c.933A>C, XM_017006062.1:c.933A>C, XM_017006063.3:c.897A>C, XM_017006063.2:c.897A>C, XM_017006063.1:c.897A>C, NM_001167674.2:c.891A>C, NM_001167674.1:c.891A>C, NM_001256502.2:c.567A>C, NM_001256502.1:c.567A>C, NM_001167675.2:c.918A>C, NM_001167675.1:c.918A>C, NM_001256504.2:c.567A>C, NM_001256504.1:c.567A>C, NM_001256505.2:c.567A>C, NM_001256505.1:c.567A>C, NM_001256503.2:c.567A>C, NM_001256503.1:c.567A>C, NM_001375960.1:c.918A>C, NM_001375961.1:c.870A>C, NM_001381964.1:c.891A>C, NM_001381963.1:c.891A>C, NM_001375964.1:c.780A>C, NM_001375967.1:c.768A>C, NM_001375968.1:c.627A>C, XM_047447872.1:c.891A>C, NP_694854.2:p.Glu299Asp, XP_016861551.1:p.Glu311Asp, XP_016861552.1:p.Glu299Asp, NP_001161146.1:p.Glu297Asp, NP_001243431.1:p.Glu189Asp, NP_001161147.1:p.Glu306Asp, NP_001243433.1:p.Glu189Asp, NP_001243434.1:p.Glu189Asp, NP_001243432.1:p.Glu189Asp, NP_001362889.1:p.Glu306Asp, NP_001362890.1:p.Glu290Asp, NP_001368893.1:p.Glu297Asp, NP_001368892.1:p.Glu297Asp, NP_001362893.1:p.Glu260Asp, NP_001362896.1:p.Glu256Asp, NP_001362897.1:p.Glu209Asp, XP_047303828.1:p.Glu297Asp

Select item 140304801515.

rs1403048015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:85886316 (GRCh38)
3:85935466 (GRCh37)
Canonical SPDI:: NC_000003.12:85886315:A:G
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.85886316A>G, NC_000003.11:g.85935466A>G, NM_153184.4:c.497A>G, NM_153184.3:c.497A>G, XM_017006062.3:c.533A>G, XM_017006062.2:c.533A>G, XM_017006062.1:c.533A>G, XM_017006063.3:c.497A>G, XM_017006063.2:c.497A>G, XM_017006063.1:c.497A>G, NM_001167674.2:c.491A>G, NM_001167674.1:c.491A>G, NM_001256502.2:c.167A>G, NM_001256502.1:c.167A>G, NM_001167675.2:c.518A>G, NM_001167675.1:c.518A>G, NM_001256504.2:c.167A>G, NM_001256504.1:c.167A>G, NM_001256505.2:c.167A>G, NM_001256505.1:c.167A>G, NM_001256503.2:c.167A>G, NM_001256503.1:c.167A>G, NM_001375960.1:c.518A>G, NM_001375961.1:c.470A>G, NM_001381964.1:c.491A>G, NM_001381963.1:c.491A>G, NM_001375967.1:c.368A>G, XM_047447872.1:c.491A>G, NP_694854.2:p.Lys166Arg, XP_016861551.1:p.Lys178Arg, XP_016861552.1:p.Lys166Arg, NP_001161146.1:p.Lys164Arg, NP_001243431.1:p.Lys56Arg, NP_001161147.1:p.Lys173Arg, NP_001243433.1:p.Lys56Arg, NP_001243434.1:p.Lys56Arg, NP_001243432.1:p.Lys56Arg, NP_001362889.1:p.Lys173Arg, NP_001362890.1:p.Lys157Arg, NP_001368893.1:p.Lys164Arg, NP_001368892.1:p.Lys164Arg, NP_001362896.1:p.Lys123Arg, XP_047303828.1:p.Lys164Arg

Select item 139980183616.

rs1399801836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:85912525 (GRCh38)
3:85961675 (GRCh37)
Canonical SPDI:: NC_000003.12:85912524:C:A,NC_000003.12:85912524:C:T
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.85912525C>A, NC_000003.12:g.85912525C>T, NC_000003.11:g.85961675C>A, NC_000003.11:g.85961675C>T, NM_153184.4:c.661C>A, NM_153184.4:c.661C>T, NM_153184.3:c.661C>A, NM_153184.3:c.661C>T, XM_017006062.3:c.697C>A, XM_017006062.3:c.697C>T, XM_017006062.2:c.697C>A, XM_017006062.2:c.697C>T, XM_017006062.1:c.697C>A, XM_017006062.1:c.697C>T, XM_017006063.3:c.661C>A, XM_017006063.3:c.661C>T, XM_017006063.2:c.661C>A, XM_017006063.2:c.661C>T, XM_017006063.1:c.661C>A, XM_017006063.1:c.661C>T, NM_001167674.2:c.655C>A, NM_001167674.2:c.655C>T, NM_001167674.1:c.655C>A, NM_001167674.1:c.655C>T, NM_001256502.2:c.331C>A, NM_001256502.2:c.331C>T, NM_001256502.1:c.331C>A, NM_001256502.1:c.331C>T, NM_001167675.2:c.682C>A, NM_001167675.2:c.682C>T, NM_001167675.1:c.682C>A, NM_001167675.1:c.682C>T, NM_001256504.2:c.331C>A, NM_001256504.2:c.331C>T, NM_001256504.1:c.331C>A, NM_001256504.1:c.331C>T, NM_001256505.2:c.331C>A, NM_001256505.2:c.331C>T, NM_001256505.1:c.331C>A, NM_001256505.1:c.331C>T, NM_001256503.2:c.331C>A, NM_001256503.2:c.331C>T, NM_001256503.1:c.331C>A, NM_001256503.1:c.331C>T, NM_001375960.1:c.682C>A, NM_001375960.1:c.682C>T, NM_001375961.1:c.634C>A, NM_001375961.1:c.634C>T, NM_001381964.1:c.655C>A, NM_001381964.1:c.655C>T, NM_001381963.1:c.655C>A, NM_001381963.1:c.655C>T, NM_001375964.1:c.544C>A, NM_001375964.1:c.544C>T, NM_001375967.1:c.532C>A, NM_001375967.1:c.532C>T, NM_001375968.1:c.391C>A, NM_001375968.1:c.391C>T, XM_047447872.1:c.655C>A, XM_047447872.1:c.655C>T, NP_694854.2:p.Gln221Lys, NP_694854.2:p.Gln221Ter, XP_016861551.1:p.Gln233Lys, XP_016861551.1:p.Gln233Ter, XP_016861552.1:p.Gln221Lys, XP_016861552.1:p.Gln221Ter, NP_001161146.1:p.Gln219Lys, NP_001161146.1:p.Gln219Ter, NP_001243431.1:p.Gln111Lys, NP_001243431.1:p.Gln111Ter, NP_001161147.1:p.Gln228Lys, NP_001161147.1:p.Gln228Ter, NP_001243433.1:p.Gln111Lys, NP_001243433.1:p.Gln111Ter, NP_001243434.1:p.Gln111Lys, NP_001243434.1:p.Gln111Ter, NP_001243432.1:p.Gln111Lys, NP_001243432.1:p.Gln111Ter, NP_001362889.1:p.Gln228Lys, NP_001362889.1:p.Gln228Ter, NP_001362890.1:p.Gln212Lys, NP_001362890.1:p.Gln212Ter, NP_001368893.1:p.Gln219Lys, NP_001368893.1:p.Gln219Ter, NP_001368892.1:p.Gln219Lys, NP_001368892.1:p.Gln219Ter, NP_001362893.1:p.Gln182Lys, NP_001362893.1:p.Gln182Ter, NP_001362896.1:p.Gln178Lys, NP_001362896.1:p.Gln178Ter, NP_001362897.1:p.Gln131Lys, NP_001362897.1:p.Gln131Ter, XP_047303828.1:p.Gln219Lys, XP_047303828.1:p.Gln219Ter

Select item 139656303217.

rs1396563032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:86065609 (GRCh38)
3:86114759 (GRCh37)
Canonical SPDI:: NC_000003.12:86065608:T:C
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.86065609T>C, NC_000003.11:g.86114759T>C, NM_153184.4:c.1074T>C, NM_153184.3:c.1074T>C, XM_017006062.3:c.1110T>C, XM_017006062.2:c.1110T>C, XM_017006062.1:c.1110T>C, XM_017006063.3:c.954T>C, XM_017006063.2:c.954T>C, XM_017006063.1:c.954T>C, NM_001167674.2:c.1068T>C, NM_001167674.1:c.1068T>C, NM_001256502.2:c.744T>C, NM_001256502.1:c.744T>C, NM_001167675.2:c.975T>C, NM_001167675.1:c.975T>C, NM_001256504.2:c.624T>C, NM_001256504.1:c.624T>C, NM_001256505.2:c.624T>C, NM_001256505.1:c.624T>C, NM_001256503.2:c.744T>C, NM_001256503.1:c.744T>C, NM_001375960.1:c.1095T>C, NM_001375961.1:c.927T>C, NM_001381964.1:c.1068T>C, NM_001381963.1:c.948T>C, NM_001375964.1:c.837T>C, NM_001375967.1:c.825T>C, NM_001375968.1:c.684T>C

Select item 139257214718.

rs1392572147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:85886296 (GRCh38)
3:85935446 (GRCh37)
Canonical SPDI:: NC_000003.12:85886295:A:C
Gene:: CADM2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.85886296A>C, NC_000003.11:g.85935446A>C, NM_153184.4:c.477A>C, NM_153184.3:c.477A>C, XM_017006062.3:c.513A>C, XM_017006062.2:c.513A>C, XM_017006062.1:c.513A>C, XM_017006063.3:c.477A>C, XM_017006063.2:c.477A>C, XM_017006063.1:c.477A>C, NM_001167674.2:c.471A>C, NM_001167674.1:c.471A>C, NM_001256502.2:c.147A>C, NM_001256502.1:c.147A>C, NM_001167675.2:c.498A>C, NM_001167675.1:c.498A>C, NM_001256504.2:c.147A>C, NM_001256504.1:c.147A>C, NM_001256505.2:c.147A>C, NM_001256505.1:c.147A>C, NM_001256503.2:c.147A>C, NM_001256503.1:c.147A>C, NM_001375960.1:c.498A>C, NM_001375961.1:c.450A>C, NM_001381964.1:c.471A>C, NM_001381963.1:c.471A>C, NM_001375967.1:c.348A>C, XM_047447872.1:c.471A>C

Select item 139189200119.

rs1391892001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:85935816 (GRCh38)
3:85984966 (GRCh37)
Canonical SPDI:: NC_000003.12:85935815:A:G
Gene:: CADM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.85935816A>G, NC_000003.11:g.85984966A>G, NM_153184.4:c.729A>G, NM_153184.3:c.729A>G, XM_017006062.3:c.765A>G, XM_017006062.2:c.765A>G, XM_017006062.1:c.765A>G, XM_017006063.3:c.729A>G, XM_017006063.2:c.729A>G, XM_017006063.1:c.729A>G, NM_001167674.2:c.723A>G, NM_001167674.1:c.723A>G, NM_001256502.2:c.399A>G, NM_001256502.1:c.399A>G, NM_001167675.2:c.750A>G, NM_001167675.1:c.750A>G, NM_001256504.2:c.399A>G, NM_001256504.1:c.399A>G, NM_001256505.2:c.399A>G, NM_001256505.1:c.399A>G, NM_001256503.2:c.399A>G, NM_001256503.1:c.399A>G, NM_001375960.1:c.750A>G, NM_001375961.1:c.702A>G, NM_001381964.1:c.723A>G, NM_001381963.1:c.723A>G, NM_001375964.1:c.612A>G, NM_001375967.1:c.600A>G, NM_001375968.1:c.459A>G, XM_047447872.1:c.723A>G

Select item 137954652720.

rs1379546527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:85886268 (GRCh38)
3:85935418 (GRCh37)
Canonical SPDI:: NC_000003.12:85886267:C:T
Gene:: CADM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.85886268C>T, NC_000003.11:g.85935418C>T, NM_153184.4:c.449C>T, NM_153184.3:c.449C>T, XM_017006062.3:c.485C>T, XM_017006062.2:c.485C>T, XM_017006062.1:c.485C>T, XM_017006063.3:c.449C>T, XM_017006063.2:c.449C>T, XM_017006063.1:c.449C>T, NM_001167674.2:c.443C>T, NM_001167674.1:c.443C>T, NM_001256502.2:c.119C>T, NM_001256502.1:c.119C>T, NM_001167675.2:c.470C>T, NM_001167675.1:c.470C>T, NM_001256504.2:c.119C>T, NM_001256504.1:c.119C>T, NM_001256505.2:c.119C>T, NM_001256505.1:c.119C>T, NM_001256503.2:c.119C>T, NM_001256503.1:c.119C>T, NM_001375960.1:c.470C>T, NM_001375961.1:c.422C>T, NM_001381964.1:c.443C>T, NM_001381963.1:c.443C>T, NM_001375967.1:c.320C>T, XM_047447872.1:c.443C>T, NP_694854.2:p.Thr150Ile, XP_016861551.1:p.Thr162Ile, XP_016861552.1:p.Thr150Ile, NP_001161146.1:p.Thr148Ile, NP_001243431.1:p.Thr40Ile, NP_001161147.1:p.Thr157Ile, NP_001243433.1:p.Thr40Ile, NP_001243434.1:p.Thr40Ile, NP_001243432.1:p.Thr40Ile, NP_001362889.1:p.Thr157Ile, NP_001362890.1:p.Thr141Ile, NP_001368893.1:p.Thr148Ile, NP_001368892.1:p.Thr148Ile, NP_001362896.1:p.Thr107Ile, XP_047303828.1:p.Thr148Ile

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