SNP Links for Protein (Select 21735594) - SNP

Select item 14861061231.

rs1486106123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:170584420 (GRCh38)
6:170893508 (GRCh37)
Canonical SPDI:: NC_000006.12:170584419:G:A,NC_000006.12:170584419:G:T
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.170584420G>A, NC_000006.12:g.170584420G>T, NC_000006.11:g.170893508G>A, NC_000006.11:g.170893508G>T, NM_002598.4:c.162C>T, NM_002598.4:c.162C>A, NM_002598.3:c.162C>T, NM_002598.3:c.162C>A, NM_144781.3:c.162C>T, NM_144781.3:c.162C>A, NM_144781.2:c.162C>T, NM_144781.2:c.162C>A, NM_001199461.2:c.162C>T, NM_001199461.2:c.162C>A, NM_001199461.1:c.162C>T, NM_001199461.1:c.162C>A, NM_001363655.2:c.162C>T, NM_001363655.2:c.162C>A, NM_001363655.1:c.162C>T, NM_001363655.1:c.162C>A, XM_047418861.1:c.162C>T, XM_047418861.1:c.162C>A, NP_002589.2:p.Cys54Ter, NP_659005.1:p.Cys54Ter, NP_001186390.1:p.Cys54Ter, NP_001350584.1:p.Cys54Ter, XP_047274817.1:p.Cys54Ter

Select item 14854232852.

rs1485423285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:170584568 (GRCh38)
6:170893656 (GRCh37)
Canonical SPDI:: NC_000006.12:170584567:C:A,NC_000006.12:170584567:C:G
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.170584568C>A, NC_000006.12:g.170584568C>G, NC_000006.11:g.170893656C>A, NC_000006.11:g.170893656C>G, NM_002598.4:c.14G>T, NM_002598.4:c.14G>C, NM_002598.3:c.14G>T, NM_002598.3:c.14G>C, NM_144781.3:c.14G>T, NM_144781.3:c.14G>C, NM_144781.2:c.14G>T, NM_144781.2:c.14G>C, NM_001199462.2:c.14G>T, NM_001199462.2:c.14G>C, NM_001199462.1:c.14G>T, NM_001199462.1:c.14G>C, NM_001199463.2:c.14G>T, NM_001199463.2:c.14G>C, NM_001199463.1:c.14G>T, NM_001199463.1:c.14G>C, NM_001199461.2:c.14G>T, NM_001199461.2:c.14G>C, NM_001199461.1:c.14G>T, NM_001199461.1:c.14G>C, NM_001199464.2:c.14G>T, NM_001199464.2:c.14G>C, NM_001199464.1:c.14G>T, NM_001199464.1:c.14G>C, NM_001363655.2:c.14G>T, NM_001363655.2:c.14G>C, NM_001363655.1:c.14G>T, NM_001363655.1:c.14G>C, XM_047418861.1:c.14G>T, XM_047418861.1:c.14G>C, NP_002589.2:p.Gly5Val, NP_002589.2:p.Gly5Ala, NP_659005.1:p.Gly5Val, NP_659005.1:p.Gly5Ala, NP_001186391.1:p.Gly5Val, NP_001186391.1:p.Gly5Ala, NP_001186392.1:p.Gly5Val, NP_001186392.1:p.Gly5Ala, NP_001186390.1:p.Gly5Val, NP_001186390.1:p.Gly5Ala, NP_001186393.1:p.Gly5Val, NP_001186393.1:p.Gly5Ala, NP_001350584.1:p.Gly5Val, NP_001350584.1:p.Gly5Ala, XP_047274817.1:p.Gly5Val, XP_047274817.1:p.Gly5Ala

Select item 14854049943.

rs1485404994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:170584492 (GRCh38)
6:170893580 (GRCh37)
Canonical SPDI:: NC_000006.12:170584491:C:G
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.170584492C>G, NC_000006.11:g.170893580C>G, NM_002598.4:c.90G>C, NM_002598.3:c.90G>C, NM_144781.3:c.90G>C, NM_144781.2:c.90G>C, NM_001199462.2:c.90G>C, NM_001199462.1:c.90G>C, NM_001199463.2:c.90G>C, NM_001199463.1:c.90G>C, NM_001199461.2:c.90G>C, NM_001199461.1:c.90G>C, NM_001199464.2:c.90G>C, NM_001199464.1:c.90G>C, NM_001363655.2:c.90G>C, NM_001363655.1:c.90G>C, XM_047418861.1:c.90G>C, NP_002589.2:p.Lys30Asn, NP_659005.1:p.Lys30Asn, NP_001186391.1:p.Lys30Asn, NP_001186392.1:p.Lys30Asn, NP_001186390.1:p.Lys30Asn, NP_001186393.1:p.Lys30Asn, NP_001350584.1:p.Lys30Asn, XP_047274817.1:p.Lys30Asn

Select item 14819551164.

rs1481955116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170583682 (GRCh38)
6:170892770 (GRCh37)
Canonical SPDI:: NC_000006.12:170583681:G:A
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.170583682G>A, NC_000006.11:g.170892770G>A, NM_002598.4:c.349C>T, NM_002598.3:c.349C>T, NM_144781.3:c.349C>T, NM_144781.2:c.349C>T, NM_001199462.2:c.250C>T, NM_001199462.1:c.250C>T, NM_001199463.2:c.250C>T, NM_001199463.1:c.250C>T, NM_001199461.2:c.349C>T, NM_001199461.1:c.349C>T, NM_001199464.2:c.250C>T, NM_001199464.1:c.250C>T, NM_001363655.2:c.349C>T, NM_001363655.1:c.349C>T, XM_047418861.1:c.349C>T, NP_002589.2:p.Pro117Ser, NP_659005.1:p.Pro117Ser, NP_001186391.1:p.Pro84Ser, NP_001186392.1:p.Pro84Ser, NP_001186390.1:p.Pro117Ser, NP_001186393.1:p.Pro84Ser, NP_001350584.1:p.Pro117Ser, XP_047274817.1:p.Pro117Ser

Select item 14778218675.

rs1477821867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:170584509 (GRCh38)
6:170893597 (GRCh37)
Canonical SPDI:: NC_000006.12:170584508:C:A,NC_000006.12:170584508:C:G
Gene:: PDCD2 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.00003/1 (GnomAD_exomes)
A=0.00011/2 (TOMMO)
A=0.00016/1 (1000Genomes)
A=0.0007/2 (KOREAN)
HGVS:: NC_000006.12:g.170584509C>A, NC_000006.12:g.170584509C>G, NC_000006.11:g.170893597C>A, NC_000006.11:g.170893597C>G, NM_002598.4:c.73G>T, NM_002598.4:c.73G>C, NM_002598.3:c.73G>T, NM_002598.3:c.73G>C, NM_144781.3:c.73G>T, NM_144781.3:c.73G>C, NM_144781.2:c.73G>T, NM_144781.2:c.73G>C, NM_001199462.2:c.73G>T, NM_001199462.2:c.73G>C, NM_001199462.1:c.73G>T, NM_001199462.1:c.73G>C, NM_001199463.2:c.73G>T, NM_001199463.2:c.73G>C, NM_001199463.1:c.73G>T, NM_001199463.1:c.73G>C, NM_001199461.2:c.73G>T, NM_001199461.2:c.73G>C, NM_001199461.1:c.73G>T, NM_001199461.1:c.73G>C, NM_001199464.2:c.73G>T, NM_001199464.2:c.73G>C, NM_001199464.1:c.73G>T, NM_001199464.1:c.73G>C, NM_001363655.2:c.73G>T, NM_001363655.2:c.73G>C, NM_001363655.1:c.73G>T, NM_001363655.1:c.73G>C, XM_047418861.1:c.73G>T, XM_047418861.1:c.73G>C, NP_002589.2:p.Glu25Ter, NP_002589.2:p.Glu25Gln, NP_659005.1:p.Glu25Ter, NP_659005.1:p.Glu25Gln, NP_001186391.1:p.Glu25Ter, NP_001186391.1:p.Glu25Gln, NP_001186392.1:p.Glu25Ter, NP_001186392.1:p.Glu25Gln, NP_001186390.1:p.Glu25Ter, NP_001186390.1:p.Glu25Gln, NP_001186393.1:p.Glu25Ter, NP_001186393.1:p.Glu25Gln, NP_001350584.1:p.Glu25Ter, NP_001350584.1:p.Glu25Gln, XP_047274817.1:p.Glu25Ter, XP_047274817.1:p.Glu25Gln

Select item 14731829456.

rs1473182945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:170584309 (GRCh38)
6:170893397 (GRCh37)
Canonical SPDI:: NC_000006.12:170584308:G:A,NC_000006.12:170584308:G:C
Gene:: PDCD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170584309G>A, NC_000006.12:g.170584309G>C, NC_000006.11:g.170893397G>A, NC_000006.11:g.170893397G>C, NM_002598.4:c.273C>T, NM_002598.4:c.273C>G, NM_002598.3:c.273C>T, NM_002598.3:c.273C>G, NM_144781.3:c.273C>T, NM_144781.3:c.273C>G, NM_144781.2:c.273C>T, NM_144781.2:c.273C>G, NM_001199462.2:c.174C>T, NM_001199462.2:c.174C>G, NM_001199462.1:c.174C>T, NM_001199462.1:c.174C>G, NM_001199463.2:c.174C>T, NM_001199463.2:c.174C>G, NM_001199463.1:c.174C>T, NM_001199463.1:c.174C>G, NM_001199461.2:c.273C>T, NM_001199461.2:c.273C>G, NM_001199461.1:c.273C>T, NM_001199461.1:c.273C>G, NM_001199464.2:c.174C>T, NM_001199464.2:c.174C>G, NM_001199464.1:c.174C>T, NM_001199464.1:c.174C>G, NM_001363655.2:c.273C>T, NM_001363655.2:c.273C>G, NM_001363655.1:c.273C>T, NM_001363655.1:c.273C>G, XM_047418861.1:c.273C>T, XM_047418861.1:c.273C>G

Select item 14719330807.

rs1471933080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:170583100 (GRCh38)
6:170892188 (GRCh37)
Canonical SPDI:: NC_000006.12:170583099:C:G
Gene:: PDCD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.170583100C>G, NC_000006.11:g.170892188C>G, NM_002598.4:c.615G>C, NM_002598.3:c.615G>C, NM_144781.3:c.615G>C, NM_144781.2:c.615G>C, NM_001199462.2:c.516G>C, NM_001199462.1:c.516G>C, NM_001199463.2:c.516G>C, NM_001199463.1:c.516G>C, NM_001199461.2:c.615G>C, NM_001199461.1:c.615G>C, NM_001199464.2:c.516G>C, NM_001199464.1:c.516G>C, NM_001363655.2:c.615G>C, NM_001363655.1:c.615G>C, XM_047418861.1:c.615G>C, NP_002589.2:p.Glu205Asp, NP_659005.1:p.Glu205Asp, NP_001186391.1:p.Glu172Asp, NP_001186392.1:p.Glu172Asp, NP_001186390.1:p.Glu205Asp, NP_001186393.1:p.Glu172Asp, NP_001350584.1:p.Glu205Asp, XP_047274817.1:p.Glu205Asp

Select item 14687663268.

rs1468766326 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:170584570 (GRCh38)
6:170893658 (GRCh37)
Canonical SPDI:: NC_000006.12:170584569:GG:G
Gene:: PDCD2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00007/1 (ALFA)
HGVS:: NC_000006.12:g.170584571del, NC_000006.11:g.170893659del, NM_002598.4:c.12del, NM_002598.3:c.12del, NM_144781.3:c.12del, NM_144781.2:c.12del, NM_001199462.2:c.12del, NM_001199462.1:c.12del, NM_001199463.2:c.12del, NM_001199463.1:c.12del, NM_001199461.2:c.12del, NM_001199461.1:c.12del, NM_001199464.2:c.12del, NM_001199464.1:c.12del, NM_001363655.2:c.12del, NM_001363655.1:c.12del, XM_047418861.1:c.12del, NP_002589.2:p.Ala6fs, NP_659005.1:p.Ala6fs, NP_001186391.1:p.Ala6fs, NP_001186392.1:p.Ala6fs, NP_001186390.1:p.Ala6fs, NP_001186393.1:p.Ala6fs, NP_001350584.1:p.Ala6fs, XP_047274817.1:p.Ala6fs

Select item 14680292249.

rs1468029224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:170583029 (GRCh38)
6:170892117 (GRCh37)
Canonical SPDI:: NC_000006.12:170583028:T:G
Gene:: PDCD2 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,intron_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_000006.12:g.170583029T>G, NC_000006.11:g.170892117T>G, NM_144781.3:c.686A>C, NM_144781.2:c.686A>C, NM_001199463.2:c.587A>C, NM_001199463.1:c.587A>C, NP_659005.1:p.Ter229Ser, NP_001186392.1:p.Ter196Ser

Select item 145987982610.

rs1459879826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170583565 (GRCh38)
6:170892653 (GRCh37)
Canonical SPDI:: NC_000006.12:170583564:T:C
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.170583565T>C, NC_000006.11:g.170892653T>C, NM_002598.4:c.466A>G, NM_002598.3:c.466A>G, NM_144781.3:c.466A>G, NM_144781.2:c.466A>G, NM_001199462.2:c.367A>G, NM_001199462.1:c.367A>G, NM_001199463.2:c.367A>G, NM_001199463.1:c.367A>G, NM_001199461.2:c.466A>G, NM_001199461.1:c.466A>G, NM_001199464.2:c.367A>G, NM_001199464.1:c.367A>G, NM_001363655.2:c.466A>G, NM_001363655.1:c.466A>G, XM_047418861.1:c.466A>G, NP_002589.2:p.Ser156Gly, NP_659005.1:p.Ser156Gly, NP_001186391.1:p.Ser123Gly, NP_001186392.1:p.Ser123Gly, NP_001186390.1:p.Ser156Gly, NP_001186393.1:p.Ser123Gly, NP_001350584.1:p.Ser156Gly, XP_047274817.1:p.Ser156Gly

Select item 144886395811.

rs1448863958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170583730 (GRCh38)
6:170892818 (GRCh37)
Canonical SPDI:: NC_000006.12:170583729:G:A
Gene:: PDCD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.170583730G>A, NC_000006.11:g.170892818G>A, NM_002598.4:c.301C>T, NM_002598.3:c.301C>T, NM_144781.3:c.301C>T, NM_144781.2:c.301C>T, NM_001199462.2:c.202C>T, NM_001199462.1:c.202C>T, NM_001199463.2:c.202C>T, NM_001199463.1:c.202C>T, NM_001199461.2:c.301C>T, NM_001199461.1:c.301C>T, NM_001199464.2:c.202C>T, NM_001199464.1:c.202C>T, NM_001363655.2:c.301C>T, NM_001363655.1:c.301C>T, XM_047418861.1:c.301C>T, NP_002589.2:p.Pro101Ser, NP_659005.1:p.Pro101Ser, NP_001186391.1:p.Pro68Ser, NP_001186392.1:p.Pro68Ser, NP_001186390.1:p.Pro101Ser, NP_001186393.1:p.Pro68Ser, NP_001350584.1:p.Pro101Ser, XP_047274817.1:p.Pro101Ser

Select item 144740147212.

rs1447401472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:170583542 (GRCh38)
6:170892630 (GRCh37)
Canonical SPDI:: NC_000006.12:170583541:G:C
Gene:: PDCD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170583542G>C, NC_000006.11:g.170892630G>C, NM_002598.4:c.489C>G, NM_002598.3:c.489C>G, NM_144781.3:c.489C>G, NM_144781.2:c.489C>G, NM_001199462.2:c.390C>G, NM_001199462.1:c.390C>G, NM_001199463.2:c.390C>G, NM_001199463.1:c.390C>G, NM_001199461.2:c.489C>G, NM_001199461.1:c.489C>G, NM_001199464.2:c.390C>G, NM_001199464.1:c.390C>G, NM_001363655.2:c.489C>G, NM_001363655.1:c.489C>G, XM_047418861.1:c.489C>G, NP_002589.2:p.Asp163Glu, NP_659005.1:p.Asp163Glu, NP_001186391.1:p.Asp130Glu, NP_001186392.1:p.Asp130Glu, NP_001186390.1:p.Asp163Glu, NP_001186393.1:p.Asp130Glu, NP_001350584.1:p.Asp163Glu, XP_047274817.1:p.Asp163Glu

Select item 144542502113.

rs1445425021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:170583613 (GRCh38)
6:170892701 (GRCh37)
Canonical SPDI:: NC_000006.12:170583612:A:G
Gene:: PDCD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.170583613A>G, NC_000006.11:g.170892701A>G, NM_002598.4:c.418T>C, NM_002598.3:c.418T>C, NM_144781.3:c.418T>C, NM_144781.2:c.418T>C, NM_001199462.2:c.319T>C, NM_001199462.1:c.319T>C, NM_001199463.2:c.319T>C, NM_001199463.1:c.319T>C, NM_001199461.2:c.418T>C, NM_001199461.1:c.418T>C, NM_001199464.2:c.319T>C, NM_001199464.1:c.319T>C, NM_001363655.2:c.418T>C, NM_001363655.1:c.418T>C, XM_047418861.1:c.418T>C, NP_002589.2:p.Cys140Arg, NP_659005.1:p.Cys140Arg, NP_001186391.1:p.Cys107Arg, NP_001186392.1:p.Cys107Arg, NP_001186390.1:p.Cys140Arg, NP_001186393.1:p.Cys107Arg, NP_001350584.1:p.Cys140Arg, XP_047274817.1:p.Cys140Arg

Select item 144529824514.

rs1445298245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:170584443 (GRCh38)
6:170893531 (GRCh37)
Canonical SPDI:: NC_000006.12:170584442:G:A
Gene:: PDCD2 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000132/35 (TOPMED)
A=0.000164/23 (GnomAD)
HGVS:: NC_000006.12:g.170584443G>A, NC_000006.11:g.170893531G>A, NM_002598.4:c.139C>T, NM_002598.3:c.139C>T, NM_144781.3:c.139C>T, NM_144781.2:c.139C>T, NM_001199461.2:c.139C>T, NM_001199461.1:c.139C>T, NM_001363655.2:c.139C>T, NM_001363655.1:c.139C>T, XM_047418861.1:c.139C>T, NP_002589.2:p.Gln47Ter, NP_659005.1:p.Gln47Ter, NP_001186390.1:p.Gln47Ter, NP_001350584.1:p.Gln47Ter, XP_047274817.1:p.Gln47Ter

Select item 144185950815.

rs1441859508 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:170583175 (GRCh38)
6:170892263 (GRCh37)
Canonical SPDI:: NC_000006.12:170583171:TATAT:TAT
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170583173AT[1], NC_000006.11:g.170892261AT[1], NM_002598.4:c.542_543del, NM_002598.3:c.542_543del, NM_144781.3:c.542_543del, NM_144781.2:c.542_543del, NM_001199462.2:c.443_444del, NM_001199462.1:c.443_444del, NM_001199463.2:c.443_444del, NM_001199463.1:c.443_444del, NM_001199461.2:c.542_543del, NM_001199461.1:c.542_543del, NM_001199464.2:c.443_444del, NM_001199464.1:c.443_444del, NM_001363655.2:c.542_543del, NM_001363655.1:c.542_543del, XM_047418861.1:c.542_543del, NP_002589.2:p.Ile181fs, NP_659005.1:p.Ile181fs, NP_001186391.1:p.Ile148fs, NP_001186392.1:p.Ile148fs, NP_001186390.1:p.Ile181fs, NP_001186393.1:p.Ile148fs, NP_001350584.1:p.Ile181fs, XP_047274817.1:p.Ile181fs

Select item 144083199716.

rs1440831997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170583687 (GRCh38)
6:170892775 (GRCh37)
Canonical SPDI:: NC_000006.12:170583686:T:C
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170583687T>C, NC_000006.11:g.170892775T>C, NM_002598.4:c.344A>G, NM_002598.3:c.344A>G, NM_144781.3:c.344A>G, NM_144781.2:c.344A>G, NM_001199462.2:c.245A>G, NM_001199462.1:c.245A>G, NM_001199463.2:c.245A>G, NM_001199463.1:c.245A>G, NM_001199461.2:c.344A>G, NM_001199461.1:c.344A>G, NM_001199464.2:c.245A>G, NM_001199464.1:c.245A>G, NM_001363655.2:c.344A>G, NM_001363655.1:c.344A>G, XM_047418861.1:c.344A>G, NP_002589.2:p.Asn115Ser, NP_659005.1:p.Asn115Ser, NP_001186391.1:p.Asn82Ser, NP_001186392.1:p.Asn82Ser, NP_001186390.1:p.Asn115Ser, NP_001186393.1:p.Asn82Ser, NP_001350584.1:p.Asn115Ser, XP_047274817.1:p.Asn115Ser

Select item 143950341117.

rs1439503411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170583707 (GRCh38)
6:170892795 (GRCh37)
Canonical SPDI:: NC_000006.12:170583706:T:C
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170583707T>C, NC_000006.11:g.170892795T>C, NM_002598.4:c.324A>G, NM_002598.3:c.324A>G, NM_144781.3:c.324A>G, NM_144781.2:c.324A>G, NM_001199462.2:c.225A>G, NM_001199462.1:c.225A>G, NM_001199463.2:c.225A>G, NM_001199463.1:c.225A>G, NM_001199461.2:c.324A>G, NM_001199461.1:c.324A>G, NM_001199464.2:c.225A>G, NM_001199464.1:c.225A>G, NM_001363655.2:c.324A>G, NM_001363655.1:c.324A>G, XM_047418861.1:c.324A>G

Select item 143773402818.

rs1437734028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:170583178 (GRCh38)
6:170892266 (GRCh37)
Canonical SPDI:: NC_000006.12:170583177:G:T
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.170583178G>T, NC_000006.11:g.170892266G>T, NM_002598.4:c.537C>A, NM_002598.3:c.537C>A, NM_144781.3:c.537C>A, NM_144781.2:c.537C>A, NM_001199462.2:c.438C>A, NM_001199462.1:c.438C>A, NM_001199463.2:c.438C>A, NM_001199463.1:c.438C>A, NM_001199461.2:c.537C>A, NM_001199461.1:c.537C>A, NM_001199464.2:c.438C>A, NM_001199464.1:c.438C>A, NM_001363655.2:c.537C>A, NM_001363655.1:c.537C>A, XM_047418861.1:c.537C>A, NP_002589.2:p.Asp179Glu, NP_659005.1:p.Asp179Glu, NP_001186391.1:p.Asp146Glu, NP_001186392.1:p.Asp146Glu, NP_001186390.1:p.Asp179Glu, NP_001186393.1:p.Asp146Glu, NP_001350584.1:p.Asp179Glu, XP_047274817.1:p.Asp179Glu

Select item 143567605619.

rs1435676056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170583555 (GRCh38)
6:170892643 (GRCh37)
Canonical SPDI:: NC_000006.12:170583554:T:C
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.170583555T>C, NC_000006.11:g.170892643T>C, NM_002598.4:c.476A>G, NM_002598.3:c.476A>G, NM_144781.3:c.476A>G, NM_144781.2:c.476A>G, NM_001199462.2:c.377A>G, NM_001199462.1:c.377A>G, NM_001199463.2:c.377A>G, NM_001199463.1:c.377A>G, NM_001199461.2:c.476A>G, NM_001199461.1:c.476A>G, NM_001199464.2:c.377A>G, NM_001199464.1:c.377A>G, NM_001363655.2:c.476A>G, NM_001363655.1:c.476A>G, XM_047418861.1:c.476A>G, NP_002589.2:p.His159Arg, NP_659005.1:p.His159Arg, NP_001186391.1:p.His126Arg, NP_001186392.1:p.His126Arg, NP_001186390.1:p.His159Arg, NP_001186393.1:p.His126Arg, NP_001350584.1:p.His159Arg, XP_047274817.1:p.His159Arg

Select item 143242457820.

rs1432424578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:170583643 (GRCh38)
6:170892731 (GRCh37)
Canonical SPDI:: NC_000006.12:170583642:A:C
Gene:: PDCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.170583643A>C, NC_000006.11:g.170892731A>C, NM_002598.4:c.388T>G, NM_002598.3:c.388T>G, NM_144781.3:c.388T>G, NM_144781.2:c.388T>G, NM_001199462.2:c.289T>G, NM_001199462.1:c.289T>G, NM_001199463.2:c.289T>G, NM_001199463.1:c.289T>G, NM_001199461.2:c.388T>G, NM_001199461.1:c.388T>G, NM_001199464.2:c.289T>G, NM_001199464.1:c.289T>G, NM_001363655.2:c.388T>G, NM_001363655.1:c.388T>G, XM_047418861.1:c.388T>G, NP_002589.2:p.Ser130Ala, NP_659005.1:p.Ser130Ala, NP_001186391.1:p.Ser97Ala, NP_001186392.1:p.Ser97Ala, NP_001186390.1:p.Ser130Ala, NP_001186393.1:p.Ser97Ala, NP_001350584.1:p.Ser130Ala, XP_047274817.1:p.Ser130Ala

dbSNP

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Result Filters

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Items: 1 to 20 of 262

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