SNP Links for Protein (Select 1119202027) - SNP

Links from Protein

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Select item 14894586571.

rs1489458657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57740172 (GRCh38)
11:57507644 (GRCh37)
Canonical SPDI:: NC_000011.10:57740171:A:G
Gene:: TMX2 (Varview), SELENOH (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.57740172A>G, NC_000011.9:g.57507644A>G, NG_052993.1:g.32650A>G, NM_015959.4:c.818A>G, NM_015959.3:c.818A>G, NM_001144012.3:c.704A>G, NM_001144012.2:c.704A>G, NM_001347895.2:c.536A>G, NM_001347895.1:c.536A>G, NM_001347893.2:c.557A>G, NM_001347893.1:c.557A>G, NM_001347894.2:c.536A>G, NM_001347894.1:c.536A>G, NR_144934.2:n.910A>G, NR_144934.1:n.980A>G, NM_001347896.2:c.536A>G, NM_001347896.1:c.536A>G, NM_001347890.2:c.839A>G, NM_001347890.1:c.839A>G, NR_144935.2:n.844A>G, NR_144935.1:n.914A>G, NM_001347898.2:c.*111A>G, NM_001347898.1:c.*111A>G, NM_001347892.2:c.611A>G, NM_001347892.1:c.611A>G, NR_144933.2:n.767A>G, NR_144933.1:n.837A>G, NM_001347891.2:c.734A>G, NM_001347891.1:c.734A>G, NR_037645.2:n.653A>G, NR_037645.1:n.723A>G, NR_026593.2:n.991A>G, NP_057043.1:p.Asn273Ser, NP_001137484.1:p.Asn235Ser, NP_001334824.1:p.Asn179Ser, NP_001334822.1:p.Asn186Ser, NP_001334823.1:p.Asn179Ser, NP_001334825.1:p.Asn179Ser, NP_001334819.1:p.Asn280Ser, NP_001334821.1:p.Asn204Ser, NP_001334820.1:p.Asn245Ser

Select item 14892562162.

rs1489256216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57738025 (GRCh38)
11:57505497 (GRCh37)
Canonical SPDI:: NC_000011.10:57738024:A:G
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57738025A>G, NC_000011.9:g.57505497A>G, NG_052993.1:g.30503A>G, NM_015959.4:c.363A>G, NM_015959.3:c.363A>G, NM_001347895.2:c.81A>G, NM_001347895.1:c.81A>G, NM_001347893.2:c.81A>G, NM_001347893.1:c.81A>G, NM_001347894.2:c.81A>G, NM_001347894.1:c.81A>G, NR_144934.2:n.466A>G, NR_144934.1:n.536A>G, NM_001347896.2:c.81A>G, NM_001347896.1:c.81A>G, NM_001347890.2:c.363A>G, NM_001347890.1:c.363A>G, NR_144935.2:n.466A>G, NR_144935.1:n.536A>G, NM_001347898.2:c.363A>G, NM_001347898.1:c.363A>G, NM_001347892.2:c.156A>G, NM_001347892.1:c.156A>G, NR_144933.2:n.389A>G, NR_144933.1:n.459A>G, NR_026593.2:n.536A>G, NP_057043.1:p.Ile121Met, NP_001334824.1:p.Ile27Met, NP_001334822.1:p.Ile27Met, NP_001334823.1:p.Ile27Met, NP_001334825.1:p.Ile27Met, NP_001334819.1:p.Ile121Met, NP_001334827.1:p.Ile121Met, NP_001334821.1:p.Ile52Met

Select item 14878506883.

rs1487850688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:57738688 (GRCh38)
11:57506160 (GRCh37)
Canonical SPDI:: NC_000011.10:57738687:G:T
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57738688G>T, NC_000011.9:g.57506160G>T, NG_052993.1:g.31166G>T, NM_015959.4:c.466G>T, NM_015959.3:c.466G>T, NM_001144012.3:c.352G>T, NM_001144012.2:c.352G>T, NM_001347895.2:c.184G>T, NM_001347895.1:c.184G>T, NM_001347893.2:c.184G>T, NM_001347893.1:c.184G>T, NM_001347894.2:c.184G>T, NM_001347894.1:c.184G>T, NR_144934.2:n.569G>T, NR_144934.1:n.639G>T, NM_001347896.2:c.184G>T, NM_001347896.1:c.184G>T, NM_001347890.2:c.466G>T, NM_001347890.1:c.466G>T, NR_144935.2:n.492G>T, NR_144935.1:n.562G>T, NM_001347898.2:c.466G>T, NM_001347898.1:c.466G>T, NM_001347892.2:c.259G>T, NM_001347892.1:c.259G>T, NR_144933.2:n.415G>T, NR_144933.1:n.485G>T, NM_001347891.2:c.382G>T, NM_001347891.1:c.382G>T, NR_037645.2:n.301G>T, NR_037645.1:n.371G>T, NR_026593.2:n.639G>T, NP_057043.1:p.Val156Phe, NP_001137484.1:p.Val118Phe, NP_001334824.1:p.Val62Phe, NP_001334822.1:p.Val62Phe, NP_001334823.1:p.Val62Phe, NP_001334825.1:p.Val62Phe, NP_001334819.1:p.Val156Phe, NP_001334827.1:p.Val156Phe, NP_001334821.1:p.Val87Phe, NP_001334820.1:p.Val128Phe

Select item 14770732124.

rs1477073212 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 11:57738016 (GRCh38)
11:57505488 (GRCh37)
Canonical SPDI:: NC_000011.10:57738012:CACAC:CAC
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57738014AC[1], NC_000011.9:g.57505486AC[1], NG_052993.1:g.30492AC[1], NM_015959.4:c.354_355del, NM_015959.3:c.354_355del, NM_001347895.2:c.72_73del, NM_001347895.1:c.72_73del, NM_001347893.2:c.72_73del, NM_001347893.1:c.72_73del, NM_001347894.2:c.72_73del, NM_001347894.1:c.72_73del, NR_144934.2:n.455AC[1], NR_144934.1:n.525AC[1], NM_001347896.2:c.72_73del, NM_001347896.1:c.72_73del, NM_001347890.2:c.354_355del, NM_001347890.1:c.354_355del, NR_144935.2:n.455AC[1], NR_144935.1:n.525AC[1], NM_001347898.2:c.354_355del, NM_001347898.1:c.354_355del, NM_001347892.2:c.147_148del, NM_001347892.1:c.147_148del, NR_144933.2:n.378AC[1], NR_144933.1:n.448AC[1], NR_026593.2:n.525AC[1], NP_057043.1:p.Cys120fs, NP_001334824.1:p.Cys26fs, NP_001334822.1:p.Cys26fs, NP_001334823.1:p.Cys26fs, NP_001334825.1:p.Cys26fs, NP_001334819.1:p.Cys120fs, NP_001334827.1:p.Cys120fs, NP_001334821.1:p.Cys51fs

Select item 14573859835.

rs1457385983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:57739033 (GRCh38)
11:57506505 (GRCh37)
Canonical SPDI:: NC_000011.10:57739032:G:T
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57739033G>T, NC_000011.9:g.57506505G>T, NG_052993.1:g.31511G>T, NM_015959.4:c.608G>T, NM_015959.3:c.608G>T, NM_001144012.3:c.494G>T, NM_001144012.2:c.494G>T, NM_001347895.2:c.326G>T, NM_001347895.1:c.326G>T, NM_001347893.2:c.326G>T, NM_001347893.1:c.326G>T, NM_001347894.2:c.326G>T, NM_001347894.1:c.326G>T, NM_001347896.2:c.326G>T, NM_001347896.1:c.326G>T, NM_001347890.2:c.608G>T, NM_001347890.1:c.608G>T, NR_144935.2:n.634G>T, NR_144935.1:n.704G>T, NM_001347892.2:c.401G>T, NM_001347892.1:c.401G>T, NR_144933.2:n.557G>T, NR_144933.1:n.627G>T, NM_001347891.2:c.524G>T, NM_001347891.1:c.524G>T, NR_037645.2:n.443G>T, NR_037645.1:n.513G>T, NR_026593.2:n.781G>T, NP_057043.1:p.Ser203Ile, NP_001137484.1:p.Ser165Ile, NP_001334824.1:p.Ser109Ile, NP_001334822.1:p.Ser109Ile, NP_001334823.1:p.Ser109Ile, NP_001334825.1:p.Ser109Ile, NP_001334819.1:p.Ser203Ile, NP_001334821.1:p.Ser134Ile, NP_001334820.1:p.Ser175Ile

Select item 14542150136.

rs1454215013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57738021 (GRCh38)
11:57505493 (GRCh37)
Canonical SPDI:: NC_000011.10:57738020:G:A
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.57738021G>A, NC_000011.9:g.57505493G>A, NG_052993.1:g.30499G>A, NM_015959.4:c.359G>A, NM_015959.3:c.359G>A, NM_001347895.2:c.77G>A, NM_001347895.1:c.77G>A, NM_001347893.2:c.77G>A, NM_001347893.1:c.77G>A, NM_001347894.2:c.77G>A, NM_001347894.1:c.77G>A, NR_144934.2:n.462G>A, NR_144934.1:n.532G>A, NM_001347896.2:c.77G>A, NM_001347896.1:c.77G>A, NM_001347890.2:c.359G>A, NM_001347890.1:c.359G>A, NR_144935.2:n.462G>A, NR_144935.1:n.532G>A, NM_001347898.2:c.359G>A, NM_001347898.1:c.359G>A, NM_001347892.2:c.152G>A, NM_001347892.1:c.152G>A, NR_144933.2:n.385G>A, NR_144933.1:n.455G>A, NR_026593.2:n.532G>A, NP_057043.1:p.Cys120Tyr, NP_001334824.1:p.Cys26Tyr, NP_001334822.1:p.Cys26Tyr, NP_001334823.1:p.Cys26Tyr, NP_001334825.1:p.Cys26Tyr, NP_001334819.1:p.Cys120Tyr, NP_001334827.1:p.Cys120Tyr, NP_001334821.1:p.Cys51Tyr

Select item 14389481647.

rs1438948164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57738382 (GRCh38)
11:57505854 (GRCh37)
Canonical SPDI:: NC_000011.10:57738381:A:G
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57738382A>G, NC_000011.9:g.57505854A>G, NG_052993.1:g.30860A>G, NM_015959.4:c.393A>G, NM_015959.3:c.393A>G, NM_001144012.3:c.279A>G, NM_001144012.2:c.279A>G, NM_001347895.2:c.111A>G, NM_001347895.1:c.111A>G, NM_001347893.2:c.111A>G, NM_001347893.1:c.111A>G, NM_001347894.2:c.111A>G, NM_001347894.1:c.111A>G, NR_144934.2:n.496A>G, NR_144934.1:n.566A>G, NM_001347896.2:c.111A>G, NM_001347896.1:c.111A>G, NM_001347890.2:c.393A>G, NM_001347890.1:c.393A>G, NM_001347898.2:c.393A>G, NM_001347898.1:c.393A>G, NM_001347892.2:c.186A>G, NM_001347892.1:c.186A>G, NM_001347891.2:c.309A>G, NM_001347891.1:c.309A>G, NR_026593.2:n.566A>G

Select item 14345024888.

rs1434502488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57739008 (GRCh38)
11:57506480 (GRCh37)
Canonical SPDI:: NC_000011.10:57739007:G:A
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57739008G>A, NC_000011.9:g.57506480G>A, NG_052993.1:g.31486G>A, NM_015959.4:c.583G>A, NM_015959.3:c.583G>A, NM_001144012.3:c.469G>A, NM_001144012.2:c.469G>A, NM_001347895.2:c.301G>A, NM_001347895.1:c.301G>A, NM_001347893.2:c.301G>A, NM_001347893.1:c.301G>A, NM_001347894.2:c.301G>A, NM_001347894.1:c.301G>A, NR_144934.2:n.686G>A, NR_144934.1:n.756G>A, NM_001347896.2:c.301G>A, NM_001347896.1:c.301G>A, NM_001347890.2:c.583G>A, NM_001347890.1:c.583G>A, NR_144935.2:n.609G>A, NR_144935.1:n.679G>A, NM_001347898.2:c.583G>A, NM_001347898.1:c.583G>A, NM_001347892.2:c.376G>A, NM_001347892.1:c.376G>A, NR_144933.2:n.532G>A, NR_144933.1:n.602G>A, NM_001347891.2:c.499G>A, NM_001347891.1:c.499G>A, NR_037645.2:n.418G>A, NR_037645.1:n.488G>A, NR_026593.2:n.756G>A, NP_057043.1:p.Asp195Asn, NP_001137484.1:p.Asp157Asn, NP_001334824.1:p.Asp101Asn, NP_001334822.1:p.Asp101Asn, NP_001334823.1:p.Asp101Asn, NP_001334825.1:p.Asp101Asn, NP_001334819.1:p.Asp195Asn, NP_001334827.1:p.Asp195Asn, NP_001334821.1:p.Asp126Asn, NP_001334820.1:p.Asp167Asn

Select item 14327808049.

rs1432780804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:57740187 (GRCh38)
11:57507659 (GRCh37)
Canonical SPDI:: NC_000011.10:57740186:A:C
Gene:: TMX2 (Varview), SELENOH (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57740187A>C, NC_000011.9:g.57507659A>C, NG_052993.1:g.32665A>C, NM_015959.4:c.833A>C, NM_015959.3:c.833A>C, NM_001144012.3:c.719A>C, NM_001144012.2:c.719A>C, NM_001347895.2:c.551A>C, NM_001347895.1:c.551A>C, NM_001347893.2:c.572A>C, NM_001347893.1:c.572A>C, NM_001347894.2:c.551A>C, NM_001347894.1:c.551A>C, NR_144934.2:n.925A>C, NR_144934.1:n.995A>C, NM_001347896.2:c.551A>C, NM_001347896.1:c.551A>C, NM_001347890.2:c.854A>C, NM_001347890.1:c.854A>C, NR_144935.2:n.859A>C, NR_144935.1:n.929A>C, NM_001347898.2:c.*126A>C, NM_001347898.1:c.*126A>C, NM_001347892.2:c.626A>C, NM_001347892.1:c.626A>C, NR_144933.2:n.782A>C, NR_144933.1:n.852A>C, NM_001347891.2:c.749A>C, NM_001347891.1:c.749A>C, NR_037645.2:n.668A>C, NR_037645.1:n.738A>C, NR_026593.2:n.1006A>C, NP_057043.1:p.Gln278Pro, NP_001137484.1:p.Gln240Pro, NP_001334824.1:p.Gln184Pro, NP_001334822.1:p.Gln191Pro, NP_001334823.1:p.Gln184Pro, NP_001334825.1:p.Gln184Pro, NP_001334819.1:p.Gln285Pro, NP_001334821.1:p.Gln209Pro, NP_001334820.1:p.Gln250Pro

Select item 143121689110.

rs1431216891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57738428 (GRCh38)
11:57505900 (GRCh37)
Canonical SPDI:: NC_000011.10:57738427:G:A
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57738428G>A, NC_000011.9:g.57505900G>A, NG_052993.1:g.30906G>A, NM_015959.4:c.439G>A, NM_015959.3:c.439G>A, NM_001144012.3:c.325G>A, NM_001144012.2:c.325G>A, NM_001347895.2:c.157G>A, NM_001347895.1:c.157G>A, NM_001347893.2:c.157G>A, NM_001347893.1:c.157G>A, NM_001347894.2:c.157G>A, NM_001347894.1:c.157G>A, NR_144934.2:n.542G>A, NR_144934.1:n.612G>A, NM_001347896.2:c.157G>A, NM_001347896.1:c.157G>A, NM_001347890.2:c.439G>A, NM_001347890.1:c.439G>A, NM_001347898.2:c.439G>A, NM_001347898.1:c.439G>A, NM_001347892.2:c.232G>A, NM_001347892.1:c.232G>A, NM_001347891.2:c.355G>A, NM_001347891.1:c.355G>A, NR_026593.2:n.612G>A, NP_057043.1:p.Asp147Asn, NP_001137484.1:p.Asp109Asn, NP_001334824.1:p.Asp53Asn, NP_001334822.1:p.Asp53Asn, NP_001334823.1:p.Asp53Asn, NP_001334825.1:p.Asp53Asn, NP_001334819.1:p.Asp147Asn, NP_001334827.1:p.Asp147Asn, NP_001334821.1:p.Asp78Asn, NP_001334820.1:p.Asp119Asn

Select item 142486452911.

rs1424864529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57738744 (GRCh38)
11:57506216 (GRCh37)
Canonical SPDI:: NC_000011.10:57738743:C:T
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57738744C>T, NC_000011.9:g.57506216C>T, NG_052993.1:g.31222C>T, NM_015959.4:c.522C>T, NM_015959.3:c.522C>T, NM_001144012.3:c.408C>T, NM_001144012.2:c.408C>T, NM_001347895.2:c.240C>T, NM_001347895.1:c.240C>T, NM_001347893.2:c.240C>T, NM_001347893.1:c.240C>T, NM_001347894.2:c.240C>T, NM_001347894.1:c.240C>T, NR_144934.2:n.625C>T, NR_144934.1:n.695C>T, NM_001347896.2:c.240C>T, NM_001347896.1:c.240C>T, NM_001347890.2:c.522C>T, NM_001347890.1:c.522C>T, NR_144935.2:n.548C>T, NR_144935.1:n.618C>T, NM_001347898.2:c.522C>T, NM_001347898.1:c.522C>T, NM_001347892.2:c.315C>T, NM_001347892.1:c.315C>T, NR_144933.2:n.471C>T, NR_144933.1:n.541C>T, NM_001347891.2:c.438C>T, NM_001347891.1:c.438C>T, NR_037645.2:n.357C>T, NR_037645.1:n.427C>T, NR_026593.2:n.695C>T

Select item 142421238412.

rs1424212384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57740185 (GRCh38)
11:57507657 (GRCh37)
Canonical SPDI:: NC_000011.10:57740184:G:A
Gene:: TMX2 (Varview), SELENOH (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57740185G>A, NC_000011.9:g.57507657G>A, NG_052993.1:g.32663G>A, NM_015959.4:c.831G>A, NM_015959.3:c.831G>A, NM_001144012.3:c.717G>A, NM_001144012.2:c.717G>A, NM_001347895.2:c.549G>A, NM_001347895.1:c.549G>A, NM_001347893.2:c.570G>A, NM_001347893.1:c.570G>A, NM_001347894.2:c.549G>A, NM_001347894.1:c.549G>A, NR_144934.2:n.923G>A, NR_144934.1:n.993G>A, NM_001347896.2:c.549G>A, NM_001347896.1:c.549G>A, NM_001347890.2:c.852G>A, NM_001347890.1:c.852G>A, NR_144935.2:n.857G>A, NR_144935.1:n.927G>A, NM_001347898.2:c.*124G>A, NM_001347898.1:c.*124G>A, NM_001347892.2:c.624G>A, NM_001347892.1:c.624G>A, NR_144933.2:n.780G>A, NR_144933.1:n.850G>A, NM_001347891.2:c.747G>A, NM_001347891.1:c.747G>A, NR_037645.2:n.666G>A, NR_037645.1:n.736G>A, NR_026593.2:n.1004G>A

Select item 142270530913.

rs1422705309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57739260 (GRCh38)
11:57506732 (GRCh37)
Canonical SPDI:: NC_000011.10:57739259:G:A
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57739260G>A, NC_000011.9:g.57506732G>A, NG_052993.1:g.31738G>A, NM_015959.4:c.744G>A, NM_015959.3:c.744G>A, NM_001144012.3:c.630G>A, NM_001144012.2:c.630G>A, NM_001347895.2:c.462G>A, NM_001347895.1:c.462G>A, NM_001347893.2:c.483G>A, NM_001347893.1:c.483G>A, NM_001347894.2:c.462G>A, NM_001347894.1:c.462G>A, NR_144934.2:n.836G>A, NR_144934.1:n.906G>A, NM_001347896.2:c.462G>A, NM_001347896.1:c.462G>A, NM_001347890.2:c.765G>A, NM_001347890.1:c.765G>A, NR_144935.2:n.770G>A, NR_144935.1:n.840G>A, NM_001347898.2:c.*37G>A, NM_001347898.1:c.*37G>A, NM_001347892.2:c.537G>A, NM_001347892.1:c.537G>A, NR_144933.2:n.693G>A, NR_144933.1:n.763G>A, NM_001347891.2:c.660G>A, NM_001347891.1:c.660G>A, NR_037645.2:n.579G>A, NR_037645.1:n.649G>A, NR_026593.2:n.917G>A

Select item 142078872414.

rs1420788724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57739176 (GRCh38)
11:57506648 (GRCh37)
Canonical SPDI:: NC_000011.10:57739175:G:A
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.57739176G>A, NC_000011.9:g.57506648G>A, NG_052993.1:g.31654G>A, NM_015959.4:c.660G>A, NM_015959.3:c.660G>A, NM_001144012.3:c.546G>A, NM_001144012.2:c.546G>A, NM_001347895.2:c.378G>A, NM_001347895.1:c.378G>A, NM_001347893.2:c.399G>A, NM_001347893.1:c.399G>A, NM_001347894.2:c.378G>A, NM_001347894.1:c.378G>A, NR_144934.2:n.752G>A, NR_144934.1:n.822G>A, NM_001347896.2:c.378G>A, NM_001347896.1:c.378G>A, NM_001347890.2:c.681G>A, NM_001347890.1:c.681G>A, NR_144935.2:n.686G>A, NR_144935.1:n.756G>A, NM_001347898.2:c.649G>A, NM_001347898.1:c.649G>A, NM_001347892.2:c.453G>A, NM_001347892.1:c.453G>A, NR_144933.2:n.609G>A, NR_144933.1:n.679G>A, NM_001347891.2:c.576G>A, NM_001347891.1:c.576G>A, NR_037645.2:n.495G>A, NR_037645.1:n.565G>A, NR_026593.2:n.833G>A, NP_001334827.1:p.Asp217Asn

Select item 140716422615.

rs1407164226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:57739156 (GRCh38)
11:57506628 (GRCh37)
Canonical SPDI:: NC_000011.10:57739155:A:C
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57739156A>C, NC_000011.9:g.57506628A>C, NG_052993.1:g.31634A>C, NM_015959.4:c.640A>C, NM_015959.3:c.640A>C, NM_001144012.3:c.526A>C, NM_001144012.2:c.526A>C, NM_001347895.2:c.358A>C, NM_001347895.1:c.358A>C, NM_001347893.2:c.379A>C, NM_001347893.1:c.379A>C, NM_001347894.2:c.358A>C, NM_001347894.1:c.358A>C, NR_144934.2:n.732A>C, NR_144934.1:n.802A>C, NM_001347896.2:c.358A>C, NM_001347896.1:c.358A>C, NM_001347890.2:c.661A>C, NM_001347890.1:c.661A>C, NR_144935.2:n.666A>C, NR_144935.1:n.736A>C, NM_001347898.2:c.629A>C, NM_001347898.1:c.629A>C, NM_001347892.2:c.433A>C, NM_001347892.1:c.433A>C, NR_144933.2:n.589A>C, NR_144933.1:n.659A>C, NM_001347891.2:c.556A>C, NM_001347891.1:c.556A>C, NR_037645.2:n.475A>C, NR_037645.1:n.545A>C, NR_026593.2:n.813A>C, NP_057043.1:p.Thr214Pro, NP_001137484.1:p.Thr176Pro, NP_001334824.1:p.Thr120Pro, NP_001334822.1:p.Thr127Pro, NP_001334823.1:p.Thr120Pro, NP_001334825.1:p.Thr120Pro, NP_001334819.1:p.Thr221Pro, NP_001334827.1:p.His210Pro, NP_001334821.1:p.Thr145Pro, NP_001334820.1:p.Thr186Pro

Select item 140110106916.

rs1401101069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57739201 (GRCh38)
11:57506673 (GRCh37)
Canonical SPDI:: NC_000011.10:57739200:G:A
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.57739201G>A, NC_000011.9:g.57506673G>A, NG_052993.1:g.31679G>A, NM_015959.4:c.685G>A, NM_015959.3:c.685G>A, NM_001144012.3:c.571G>A, NM_001144012.2:c.571G>A, NM_001347895.2:c.403G>A, NM_001347895.1:c.403G>A, NM_001347893.2:c.424G>A, NM_001347893.1:c.424G>A, NM_001347894.2:c.403G>A, NM_001347894.1:c.403G>A, NR_144934.2:n.777G>A, NR_144934.1:n.847G>A, NM_001347896.2:c.403G>A, NM_001347896.1:c.403G>A, NM_001347890.2:c.706G>A, NM_001347890.1:c.706G>A, NR_144935.2:n.711G>A, NR_144935.1:n.781G>A, NM_001347898.2:c.674G>A, NM_001347898.1:c.674G>A, NM_001347892.2:c.478G>A, NM_001347892.1:c.478G>A, NR_144933.2:n.634G>A, NR_144933.1:n.704G>A, NM_001347891.2:c.601G>A, NM_001347891.1:c.601G>A, NR_037645.2:n.520G>A, NR_037645.1:n.590G>A, NR_026593.2:n.858G>A, NP_057043.1:p.Ala229Thr, NP_001137484.1:p.Ala191Thr, NP_001334824.1:p.Ala135Thr, NP_001334822.1:p.Ala142Thr, NP_001334823.1:p.Ala135Thr, NP_001334825.1:p.Ala135Thr, NP_001334819.1:p.Ala236Thr, NP_001334827.1:p.Gly225Asp, NP_001334821.1:p.Ala160Thr, NP_001334820.1:p.Ala201Thr

Select item 140099097117.

rs1400990971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57740104 (GRCh38)
11:57507576 (GRCh37)
Canonical SPDI:: NC_000011.10:57740103:T:C
Gene:: TMX2 (Varview), SELENOH (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.57740104T>C, NC_000011.9:g.57507576T>C, NG_052993.1:g.32582T>C, NM_015959.4:c.750T>C, NM_015959.3:c.750T>C, NM_001144012.3:c.636T>C, NM_001144012.2:c.636T>C, NM_001347895.2:c.468T>C, NM_001347895.1:c.468T>C, NM_001347893.2:c.489T>C, NM_001347893.1:c.489T>C, NM_001347894.2:c.468T>C, NM_001347894.1:c.468T>C, NR_144934.2:n.842T>C, NR_144934.1:n.912T>C, NM_001347896.2:c.468T>C, NM_001347896.1:c.468T>C, NM_001347890.2:c.771T>C, NM_001347890.1:c.771T>C, NR_144935.2:n.776T>C, NR_144935.1:n.846T>C, NM_001347898.2:c.*43T>C, NM_001347898.1:c.*43T>C, NM_001347892.2:c.543T>C, NM_001347892.1:c.543T>C, NR_144933.2:n.699T>C, NR_144933.1:n.769T>C, NM_001347891.2:c.666T>C, NM_001347891.1:c.666T>C, NR_037645.2:n.585T>C, NR_037645.1:n.655T>C, NR_026593.2:n.923T>C

Select item 140060420118.

rs1400604201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57740166 (GRCh38)
11:57507638 (GRCh37)
Canonical SPDI:: NC_000011.10:57740165:G:A
Gene:: TMX2 (Varview), SELENOH (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57740166G>A, NC_000011.9:g.57507638G>A, NG_052993.1:g.32644G>A, NM_015959.4:c.812G>A, NM_015959.3:c.812G>A, NM_001144012.3:c.698G>A, NM_001144012.2:c.698G>A, NM_001347895.2:c.530G>A, NM_001347895.1:c.530G>A, NM_001347893.2:c.551G>A, NM_001347893.1:c.551G>A, NM_001347894.2:c.530G>A, NM_001347894.1:c.530G>A, NR_144934.2:n.904G>A, NR_144934.1:n.974G>A, NM_001347896.2:c.530G>A, NM_001347896.1:c.530G>A, NM_001347890.2:c.833G>A, NM_001347890.1:c.833G>A, NR_144935.2:n.838G>A, NR_144935.1:n.908G>A, NM_001347898.2:c.*105G>A, NM_001347898.1:c.*105G>A, NM_001347892.2:c.605G>A, NM_001347892.1:c.605G>A, NR_144933.2:n.761G>A, NR_144933.1:n.831G>A, NM_001347891.2:c.728G>A, NM_001347891.1:c.728G>A, NR_037645.2:n.647G>A, NR_037645.1:n.717G>A, NR_026593.2:n.985G>A, NP_057043.1:p.Gly271Glu, NP_001137484.1:p.Gly233Glu, NP_001334824.1:p.Gly177Glu, NP_001334822.1:p.Gly184Glu, NP_001334823.1:p.Gly177Glu, NP_001334825.1:p.Gly177Glu, NP_001334819.1:p.Gly278Glu, NP_001334821.1:p.Gly202Glu, NP_001334820.1:p.Gly243Glu

Select item 139896499119.

rs1398964991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57739000 (GRCh38)
11:57506472 (GRCh37)
Canonical SPDI:: NC_000011.10:57738999:G:A
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57739000G>A, NC_000011.9:g.57506472G>A, NG_052993.1:g.31478G>A, NM_015959.4:c.575G>A, NM_015959.3:c.575G>A, NM_001144012.3:c.461G>A, NM_001144012.2:c.461G>A, NM_001347895.2:c.293G>A, NM_001347895.1:c.293G>A, NM_001347893.2:c.293G>A, NM_001347893.1:c.293G>A, NM_001347894.2:c.293G>A, NM_001347894.1:c.293G>A, NR_144934.2:n.678G>A, NR_144934.1:n.748G>A, NM_001347896.2:c.293G>A, NM_001347896.1:c.293G>A, NM_001347890.2:c.575G>A, NM_001347890.1:c.575G>A, NR_144935.2:n.601G>A, NR_144935.1:n.671G>A, NM_001347898.2:c.575G>A, NM_001347898.1:c.575G>A, NM_001347892.2:c.368G>A, NM_001347892.1:c.368G>A, NR_144933.2:n.524G>A, NR_144933.1:n.594G>A, NM_001347891.2:c.491G>A, NM_001347891.1:c.491G>A, NR_037645.2:n.410G>A, NR_037645.1:n.480G>A, NR_026593.2:n.748G>A, NP_057043.1:p.Gly192Glu, NP_001137484.1:p.Gly154Glu, NP_001334824.1:p.Gly98Glu, NP_001334822.1:p.Gly98Glu, NP_001334823.1:p.Gly98Glu, NP_001334825.1:p.Gly98Glu, NP_001334819.1:p.Gly192Glu, NP_001334827.1:p.Gly192Glu, NP_001334821.1:p.Gly123Glu, NP_001334820.1:p.Gly164Glu

Select item 139232775320.

rs1392327753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:57739139 (GRCh38)
11:57506611 (GRCh37)
Canonical SPDI:: NC_000011.10:57739138:T:G
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57739139T>G, NC_000011.9:g.57506611T>G, NG_052993.1:g.31617T>G, NM_015959.4:c.623T>G, NM_015959.3:c.623T>G, NM_001144012.3:c.509T>G, NM_001144012.2:c.509T>G, NM_001347895.2:c.341T>G, NM_001347895.1:c.341T>G, NM_001347893.2:c.362T>G, NM_001347893.1:c.362T>G, NM_001347894.2:c.341T>G, NM_001347894.1:c.341T>G, NR_144934.2:n.715T>G, NR_144934.1:n.785T>G, NM_001347896.2:c.341T>G, NM_001347896.1:c.341T>G, NM_001347890.2:c.644T>G, NM_001347890.1:c.644T>G, NR_144935.2:n.649T>G, NR_144935.1:n.719T>G, NM_001347898.2:c.612T>G, NM_001347898.1:c.612T>G, NM_001347892.2:c.416T>G, NM_001347892.1:c.416T>G, NR_144933.2:n.572T>G, NR_144933.1:n.642T>G, NM_001347891.2:c.539T>G, NM_001347891.1:c.539T>G, NR_037645.2:n.458T>G, NR_037645.1:n.528T>G, NR_026593.2:n.796T>G, NP_057043.1:p.Val208Gly, NP_001137484.1:p.Val170Gly, NP_001334824.1:p.Val114Gly, NP_001334822.1:p.Val121Gly, NP_001334823.1:p.Val114Gly, NP_001334825.1:p.Val114Gly, NP_001334819.1:p.Val215Gly, NP_001334827.1:p.Ser204Arg, NP_001334821.1:p.Val139Gly, NP_001334820.1:p.Val180Gly

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