SNP Links for Protein (Select 281182842) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:26861287 (GRCh38)
4:26862909 (GRCh37)
Canonical SPDI:: NC_000004.12:26861286:C:T
Gene:: STIM2 (Varview), STIM2-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.26861287C>T, NC_000004.11:g.26862909C>T, NM_020860.4:c.69C>T, NM_020860.3:c.69C>T, NM_001169117.2:c.69C>T, NM_001169117.1:c.69C>T, NM_001169118.2:c.69C>T, NM_001169118.1:c.69C>T

Select item 14849813616.

rs1484981361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:27002336 (GRCh38)
4:27003958 (GRCh37)
Canonical SPDI:: NC_000004.12:27002335:A:G
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.27002336A>G, NC_000004.11:g.27003958A>G, NM_020860.4:c.745A>G, NM_020860.3:c.745A>G, NM_001169117.2:c.745A>G, NM_001169117.1:c.745A>G, NM_001169118.2:c.745A>G, NM_001169118.1:c.745A>G, NP_065911.3:p.Met249Val, NP_001162588.1:p.Met249Val, NP_001162589.1:p.Met249Val

Select item 14847997257.

rs1484799725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:27009000 (GRCh38)
4:27010622 (GRCh37)
Canonical SPDI:: NC_000004.12:27008999:C:T
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.27009000C>T, NC_000004.11:g.27010622C>T, NM_020860.4:c.1487C>T, NM_020860.3:c.1487C>T, NM_001169117.2:c.1487C>T, NM_001169117.1:c.1487C>T, NM_001169118.2:c.1511C>T, NM_001169118.1:c.1511C>T, NP_065911.3:p.Pro496Leu, NP_001162588.1:p.Pro496Leu, NP_001162589.1:p.Pro504Leu

Select item 14818452948.

rs1481845294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:26957655 (GRCh38)
4:26959277 (GRCh37)
Canonical SPDI:: NC_000004.12:26957654:A:G
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.26957655A>G, NC_000004.11:g.26959277A>G, NM_020860.4:c.326A>G, NM_020860.3:c.326A>G, NM_001169117.2:c.326A>G, NM_001169117.1:c.326A>G, NM_001169118.2:c.326A>G, NM_001169118.1:c.326A>G, NP_065911.3:p.His109Arg, NP_001162588.1:p.His109Arg, NP_001162589.1:p.His109Arg

Select item 14815159289.

rs1481515928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:27022531 (GRCh38)
4:27024153 (GRCh37)
Canonical SPDI:: NC_000004.12:27022530:C:T
Gene:: STIM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.27022531C>T, NC_000004.11:g.27024153C>T, NM_020860.4:c.1776C>T, NM_020860.3:c.1776C>T, NM_001169117.2:c.*44C>T, NM_001169117.1:c.*44C>T, NM_001169118.2:c.1800C>T, NM_001169118.1:c.1800C>T

Select item 148146712710.

rs1481467127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:26999255 (GRCh38)
4:27000877 (GRCh37)
Canonical SPDI:: NC_000004.12:26999254:T:G
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.26999255T>G, NC_000004.11:g.27000877T>G, NM_020860.4:c.533T>G, NM_020860.3:c.533T>G, NM_001169117.2:c.533T>G, NM_001169117.1:c.533T>G, NM_001169118.2:c.533T>G, NM_001169118.1:c.533T>G, NP_065911.3:p.Phe178Cys, NP_001162588.1:p.Phe178Cys, NP_001162589.1:p.Phe178Cys

Select item 147994304311.

rs1479943043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:27022667 (GRCh38)
4:27024289 (GRCh37)
Canonical SPDI:: NC_000004.12:27022666:G:C
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000016/4 (GnomAD_exomes)
C=0.000057/15 (TOPMED)
C=0.0001/14 (GnomAD)
HGVS:: NC_000004.12:g.27022667G>C, NC_000004.11:g.27024289G>C, NM_020860.4:c.1912G>C, NM_020860.3:c.1912G>C, NM_001169117.2:c.*180G>C, NM_001169117.1:c.*180G>C, NM_001169118.2:c.1936G>C, NM_001169118.1:c.1936G>C, NP_065911.3:p.Gly638Arg, NP_001162589.1:p.Gly646Arg

Select item 147950301012.

rs1479503010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:26861353 (GRCh38)
4:26862975 (GRCh37)
Canonical SPDI:: NC_000004.12:26861352:C:T
Gene:: STIM2 (Varview), STIM2-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.00009/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.26861353C>T, NC_000004.11:g.26862975C>T, NM_020860.4:c.135C>T, NM_020860.3:c.135C>T, NM_001169117.2:c.135C>T, NM_001169117.1:c.135C>T, NM_001169118.2:c.135C>T, NM_001169118.1:c.135C>T

Select item 147827148113.

rs1478271481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:27022671 (GRCh38)
4:27024293 (GRCh37)
Canonical SPDI:: NC_000004.12:27022670:A:G
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.27022671A>G, NC_000004.11:g.27024293A>G, NM_020860.4:c.1916A>G, NM_020860.3:c.1916A>G, NM_001169117.2:c.*184A>G, NM_001169117.1:c.*184A>G, NM_001169118.2:c.1940A>G, NM_001169118.1:c.1940A>G, NP_065911.3:p.Asp639Gly, NP_001162589.1:p.Asp647Gly

Select item 147342329414.

rs1473423294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:27008492 (GRCh38)
4:27010114 (GRCh37)
Canonical SPDI:: NC_000004.12:27008491:C:T
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.27008492C>T, NC_000004.11:g.27010114C>T, NM_020860.4:c.1214C>T, NM_020860.3:c.1214C>T, NM_001169117.2:c.1214C>T, NM_001169117.1:c.1214C>T, NM_001169118.2:c.1238C>T, NM_001169118.1:c.1238C>T, NP_065911.3:p.Ser405Phe, NP_001162588.1:p.Ser405Phe, NP_001162589.1:p.Ser413Phe

Select item 147342039815.

rs1473420398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:26861234 (GRCh38)
4:26862856 (GRCh37)
Canonical SPDI:: NC_000004.12:26861233:C:T
Gene:: STIM2 (Varview), STIM2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.26861234C>T, NC_000004.11:g.26862856C>T, NM_020860.4:c.16C>T, NM_020860.3:c.16C>T, NM_001169117.2:c.16C>T, NM_001169117.1:c.16C>T, NM_001169118.2:c.16C>T, NM_001169118.1:c.16C>T

Select item 147305283216.

rs1473052832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:27017751 (GRCh38)
4:27019373 (GRCh37)
Canonical SPDI:: NC_000004.12:27017750:C:T
Gene:: STIM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.27017751C>T, NC_000004.11:g.27019373C>T, NM_020860.4:c.1530C>T, NM_020860.3:c.1530C>T, NM_001169117.2:c.1530C>T, NM_001169117.1:c.1530C>T, NM_001169118.2:c.1554C>T, NM_001169118.1:c.1554C>T

Select item 147135885617.

rs1471358856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:27002262 (GRCh38)
4:27003884 (GRCh37)
Canonical SPDI:: NC_000004.12:27002261:T:C
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.27002262T>C, NC_000004.11:g.27003884T>C, NM_020860.4:c.671T>C, NM_020860.3:c.671T>C, NM_001169117.2:c.671T>C, NM_001169117.1:c.671T>C, NM_001169118.2:c.671T>C, NM_001169118.1:c.671T>C, NP_065911.3:p.Ile224Thr, NP_001162588.1:p.Ile224Thr, NP_001162589.1:p.Ile224Thr

Select item 147042078718.

rs1470420787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:27022956 (GRCh38)
4:27024578 (GRCh37)
Canonical SPDI:: NC_000004.12:27022955:C:T
Gene:: STIM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.27022956C>T, NC_000004.11:g.27024578C>T, NM_020860.4:c.2201C>T, NM_020860.3:c.2201C>T, NM_001169117.2:c.*469C>T, NM_001169117.1:c.*469C>T, NM_001169118.2:c.2225C>T, NM_001169118.1:c.2225C>T, NP_065911.3:p.Pro734Leu, NP_001162589.1:p.Pro742Leu

Select item 146977430019.

rs1469774300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:27008955 (GRCh38)
4:27010577 (GRCh37)
Canonical SPDI:: NC_000004.12:27008954:T:C
Gene:: STIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.27008955T>C, NC_000004.11:g.27010577T>C, NM_020860.4:c.1442T>C, NM_020860.3:c.1442T>C, NM_001169117.2:c.1442T>C, NM_001169117.1:c.1442T>C, NM_001169118.2:c.1466T>C, NM_001169118.1:c.1466T>C, NP_065911.3:p.Val481Ala, NP_001162588.1:p.Val481Ala, NP_001162589.1:p.Val489Ala

Select item 146958350020.

rs1469583500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:26861307 (GRCh38)
4:26862929 (GRCh37)
Canonical SPDI:: NC_000004.12:26861306:C:T
Gene:: STIM2 (Varview), STIM2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.26861307C>T, NC_000004.11:g.26862929C>T, NM_020860.4:c.89C>T, NM_020860.3:c.89C>T, NM_001169117.2:c.89C>T, NM_001169117.1:c.89C>T, NM_001169118.2:c.89C>T, NM_001169118.1:c.89C>T, NP_065911.3:p.Ser30Phe, NP_001162588.1:p.Ser30Phe, NP_001162589.1:p.Ser30Phe

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