SNP Links for Protein (Select 312261213) - SNP

Links from Protein

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Select item 14829458931.

rs1482945893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:31433101 (GRCh38)
1:31905948 (GRCh37)
Canonical SPDI:: NC_000001.11:31433100:G:C
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.31433101G>C, NC_000001.10:g.31905948G>C, NG_055425.1:g.4396G>C, NW_003571030.1:g.33190G>C, NM_178865.5:c.1148G>C, NM_178865.4:c.1148G>C, NM_018565.4:c.1160G>C, NM_018565.3:c.1160G>C, NM_001199039.2:c.983G>C, NM_001199039.1:c.983G>C, NM_001199037.2:c.1160G>C, NM_001199037.1:c.1160G>C, NM_001199038.2:c.1175G>C, NM_001199038.1:c.1175G>C, NP_849196.2:p.Gly383Ala, NP_061035.2:p.Gly387Ala, NP_001185968.1:p.Gly328Ala, NP_001185966.1:p.Gly387Ala, NP_001185967.1:p.Gly392Ala

Select item 14813372852.

rs1481337285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:31423717 (GRCh38)
1:31896564 (GRCh37)
Canonical SPDI:: NC_000001.11:31423716:C:G,NC_000001.11:31423716:C:T
Gene:: SERINC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.31423717C>G, NC_000001.11:g.31423717C>T, NC_000001.10:g.31896564C>G, NC_000001.10:g.31896564C>T, NW_003571030.1:g.23806C>G, NW_003571030.1:g.23806C>T, NM_178865.5:c.64C>G, NM_178865.5:c.64C>T, NM_178865.4:c.64C>G, NM_178865.4:c.64C>T, NM_018565.4:c.76C>G, NM_018565.4:c.76C>T, NM_018565.3:c.76C>G, NM_018565.3:c.76C>T, NM_001199039.2:c.-102C>G, NM_001199039.2:c.-102C>T, NM_001199039.1:c.-102C>G, NM_001199039.1:c.-102C>T, NM_001199037.2:c.76C>G, NM_001199037.2:c.76C>T, NM_001199037.1:c.76C>G, NM_001199037.1:c.76C>T, NM_001199038.2:c.91C>G, NM_001199038.2:c.91C>T, NM_001199038.1:c.91C>G, NM_001199038.1:c.91C>T, NP_849196.2:p.Pro22Ala, NP_849196.2:p.Pro22Ser, NP_061035.2:p.Pro26Ala, NP_061035.2:p.Pro26Ser, NP_001185966.1:p.Pro26Ala, NP_001185966.1:p.Pro26Ser, NP_001185967.1:p.Pro31Ala, NP_001185967.1:p.Pro31Ser

Select item 14720285583.

rs1472028558 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:31432985 (GRCh38)
1:31905832 (GRCh37)
Canonical SPDI:: NC_000001.11:31432984:CC:C
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31432986del, NC_000001.10:g.31905833del, NG_055425.1:g.4281del, NW_003571030.1:g.33075del, NM_178865.5:c.1033del, NM_178865.4:c.1033del, NM_018565.4:c.1045del, NM_018565.3:c.1045del, NM_001199039.2:c.868del, NM_001199039.1:c.868del, NM_001199037.2:c.1045del, NM_001199037.1:c.1045del, NM_001199038.2:c.1060del, NM_001199038.1:c.1060del, NP_849196.2:p.Arg345fs, NP_061035.2:p.Arg349fs, NP_001185968.1:p.Arg290fs, NP_001185966.1:p.Arg349fs, NP_001185967.1:p.Arg354fs

Select item 14670320574.

rs1467032057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:31434108 (GRCh38)
1:31906955 (GRCh37)
Canonical SPDI:: NC_000001.11:31434107:G:A,NC_000001.11:31434107:G:T
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31434108G>A, NC_000001.11:g.31434108G>T, NC_000001.10:g.31906955G>A, NC_000001.10:g.31906955G>T, NG_055425.1:g.5403G>A, NG_055425.1:g.5403G>T, NW_003571030.1:g.34197G>A, NW_003571030.1:g.34197G>T, NM_178865.5:c.1277G>A, NM_178865.5:c.1277G>T, NM_178865.4:c.1277G>A, NM_178865.4:c.1277G>T, NM_018565.4:c.1289G>A, NM_018565.4:c.1289G>T, NM_018565.3:c.1289G>A, NM_018565.3:c.1289G>T, NM_001199039.2:c.1112G>A, NM_001199039.2:c.1112G>T, NM_001199039.1:c.1112G>A, NM_001199039.1:c.1112G>T, NM_001199037.2:c.1289G>A, NM_001199037.2:c.1289G>T, NM_001199037.1:c.1289G>A, NM_001199037.1:c.1289G>T, NM_001199038.2:c.1304G>A, NM_001199038.2:c.1304G>T, NM_001199038.1:c.1304G>A, NM_001199038.1:c.1304G>T, NP_849196.2:p.Trp426Ter, NP_849196.2:p.Trp426Leu, NP_061035.2:p.Trp430Ter, NP_061035.2:p.Trp430Leu, NP_001185968.1:p.Trp371Ter, NP_001185968.1:p.Trp371Leu, NP_001185966.1:p.Trp430Ter, NP_001185966.1:p.Trp430Leu, NP_001185967.1:p.Trp435Ter, NP_001185967.1:p.Trp435Leu

Select item 14653992005.

rs1465399200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:31425870 (GRCh38)
1:31898717 (GRCh37)
Canonical SPDI:: NC_000001.11:31425869:G:C
Gene:: SERINC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.31425870G>C, NC_000001.10:g.31898717G>C, NW_003571030.1:g.25959G>C, NM_178865.5:c.567G>C, NM_178865.4:c.567G>C, NM_018565.4:c.579G>C, NM_018565.3:c.579G>C, NM_001199039.2:c.402G>C, NM_001199039.1:c.402G>C, NM_001199037.2:c.579G>C, NM_001199037.1:c.579G>C, NM_001199038.2:c.594G>C, NM_001199038.1:c.594G>C, NP_849196.2:p.Trp189Cys, NP_061035.2:p.Trp193Cys, NP_001185968.1:p.Trp134Cys, NP_001185966.1:p.Trp193Cys, NP_001185967.1:p.Trp198Cys

Select item 14647939176.

rs1464793917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:31426706 (GRCh38)
1:31899553 (GRCh37)
Canonical SPDI:: NC_000001.11:31426705:G:A,NC_000001.11:31426705:G:T
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31426706G>A, NC_000001.11:g.31426706G>T, NC_000001.10:g.31899553G>A, NC_000001.10:g.31899553G>T, NW_003571030.1:g.26795G>A, NW_003571030.1:g.26795G>T, NM_178865.5:c.663G>A, NM_178865.5:c.663G>T, NM_178865.4:c.663G>A, NM_178865.4:c.663G>T, NM_018565.4:c.675G>A, NM_018565.4:c.675G>T, NM_018565.3:c.675G>A, NM_018565.3:c.675G>T, NM_001199039.2:c.498G>A, NM_001199039.2:c.498G>T, NM_001199039.1:c.498G>A, NM_001199039.1:c.498G>T, NM_001199037.2:c.675G>A, NM_001199037.2:c.675G>T, NM_001199037.1:c.675G>A, NM_001199037.1:c.675G>T, NM_001199038.2:c.690G>A, NM_001199038.2:c.690G>T, NM_001199038.1:c.690G>A, NM_001199038.1:c.690G>T, XR_007065585.1:n.1315C>T, XR_007065585.1:n.1315C>A

Select item 14617012397.

rs1461701239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31432991 (GRCh38)
1:31905838 (GRCh37)
Canonical SPDI:: NC_000001.11:31432990:G:A
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.31432991G>A, NC_000001.10:g.31905838G>A, NG_055425.1:g.4286G>A, NW_003571030.1:g.33080G>A, NM_178865.5:c.1038G>A, NM_178865.4:c.1038G>A, NM_018565.4:c.1050G>A, NM_018565.3:c.1050G>A, NM_001199039.2:c.873G>A, NM_001199039.1:c.873G>A, NM_001199037.2:c.1050G>A, NM_001199037.1:c.1050G>A, NM_001199038.2:c.1065G>A, NM_001199038.1:c.1065G>A

Select item 14612766078.

rs1461276607 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:31433152 (GRCh38)
1:31905999 (GRCh37)
Canonical SPDI:: NC_000001.11:31433151:T:
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31433152del, NC_000001.10:g.31905999del, NG_055425.1:g.4447del, NW_003571030.1:g.33241del, NM_178865.5:c.1199del, NM_178865.4:c.1199del, NM_018565.4:c.1211del, NM_018565.3:c.1211del, NM_001199039.2:c.1034del, NM_001199039.1:c.1034del, NM_001199037.2:c.1211del, NM_001199037.1:c.1211del, NM_001199038.2:c.1226del, NM_001199038.1:c.1226del, NP_849196.2:p.Leu400fs, NP_061035.2:p.Leu404fs, NP_001185968.1:p.Leu345fs, NP_001185966.1:p.Leu404fs, NP_001185967.1:p.Leu409fs

Select item 14524290219.

rs1452429021 has merged into rs782185110 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 1:31433124 (GRCh38)
1:31905971 (GRCh37)
Canonical SPDI:: NC_000001.11:31433119:CTTCTTC:CTTC
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTC=0.000087/2 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000056/14 (GnomAD_exomes)
-=0.000057/15 (TOPMED)
-=0.000091/11 (ExAC)
HGVS:: NC_000001.11:g.31433121TTC[1], NC_000001.10:g.31905968TTC[1], NG_055425.1:g.4416TTC[1], NW_003571030.1:g.33210TTC[1], NM_178865.5:c.1168TTC[1], NM_178865.4:c.1168TTC[1], NM_018565.4:c.1180TTC[1], NM_018565.3:c.1180TTC[1], NM_001199039.2:c.1003TTC[1], NM_001199039.1:c.1003TTC[1], NM_001199037.2:c.1180TTC[1], NM_001199037.1:c.1180TTC[1], NM_001199038.2:c.1195TTC[1], NM_001199038.1:c.1195TTC[1], NP_849196.2:p.Phe391del, NP_061035.2:p.Phe395del, NP_001185968.1:p.Phe336del, NP_001185966.1:p.Phe395del, NP_001185967.1:p.Phe400del

Select item 145044284410.

rs1450442844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:31426720 (GRCh38)
1:31899567 (GRCh37)
Canonical SPDI:: NC_000001.11:31426719:A:G,NC_000001.11:31426719:A:T
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31426720A>G, NC_000001.11:g.31426720A>T, NC_000001.10:g.31899567A>G, NC_000001.10:g.31899567A>T, NW_003571030.1:g.26809A>G, NW_003571030.1:g.26809A>T, NM_178865.5:c.677A>G, NM_178865.5:c.677A>T, NM_178865.4:c.677A>G, NM_178865.4:c.677A>T, NM_018565.4:c.689A>G, NM_018565.4:c.689A>T, NM_018565.3:c.689A>G, NM_018565.3:c.689A>T, NM_001199039.2:c.512A>G, NM_001199039.2:c.512A>T, NM_001199039.1:c.512A>G, NM_001199039.1:c.512A>T, NM_001199037.2:c.689A>G, NM_001199037.2:c.689A>T, NM_001199037.1:c.689A>G, NM_001199037.1:c.689A>T, NM_001199038.2:c.704A>G, NM_001199038.2:c.704A>T, NM_001199038.1:c.704A>G, NM_001199038.1:c.704A>T, XR_007065585.1:n.1301T>C, XR_007065585.1:n.1301T>A, NP_849196.2:p.Tyr226Cys, NP_849196.2:p.Tyr226Phe, NP_061035.2:p.Tyr230Cys, NP_061035.2:p.Tyr230Phe, NP_001185968.1:p.Tyr171Cys, NP_001185968.1:p.Tyr171Phe, NP_001185966.1:p.Tyr230Cys, NP_001185966.1:p.Tyr230Phe, NP_001185967.1:p.Tyr235Cys, NP_001185967.1:p.Tyr235Phe

Select item 145016142711.

rs1450161427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:31425912 (GRCh38)
1:31898759 (GRCh37)
Canonical SPDI:: NC_000001.11:31425911:A:C
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000034/9 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.31425912A>C, NC_000001.10:g.31898759A>C, NW_003571030.1:g.26001A>C, NM_178865.5:c.609A>C, NM_178865.4:c.609A>C, NM_018565.4:c.621A>C, NM_018565.3:c.621A>C, NM_001199039.2:c.444A>C, NM_001199039.1:c.444A>C, NM_001199037.2:c.621A>C, NM_001199037.1:c.621A>C, NM_001199038.2:c.636A>C, NM_001199038.1:c.636A>C

Select item 144314726612.

rs1443147266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31429437 (GRCh38)
1:31902284 (GRCh37)
Canonical SPDI:: NC_000001.11:31429436:C:T
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000001.11:g.31429437C>T, NC_000001.10:g.31902284C>T, NG_055425.1:g.732C>T, NW_003571030.1:g.29526C>T, NM_178865.5:c.912C>T, NM_178865.4:c.912C>T, NM_018565.4:c.924C>T, NM_018565.3:c.924C>T, NM_001199039.2:c.747C>T, NM_001199039.1:c.747C>T, NM_001199037.2:c.924C>T, NM_001199037.1:c.924C>T, NM_001199038.2:c.939C>T, NM_001199038.1:c.939C>T

Select item 143843056213.

rs1438430562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:31414033 (GRCh38)
1:31886880 (GRCh37)
Canonical SPDI:: NC_000001.11:31414032:C:G,NC_000001.11:31414032:C:T
Gene:: SERINC2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000021/3 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.31414033C>G, NC_000001.11:g.31414033C>T, NC_000001.10:g.31886880C>G, NC_000001.10:g.31886880C>T, NW_003571030.1:g.14122C>G, NW_003571030.1:g.14122C>T, NM_018565.4:c.20C>G, NM_018565.4:c.20C>T, NM_018565.3:c.20C>G, NM_018565.3:c.20C>T, NM_001199039.2:c.-906C>G, NM_001199039.2:c.-906C>T, NM_001199039.1:c.-906C>G, NM_001199039.1:c.-906C>T, NP_061035.2:p.Pro7Arg, NP_061035.2:p.Pro7Leu

Select item 143369593514.

rs1433695935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:31429471 (GRCh38)
1:31902318 (GRCh37)
Canonical SPDI:: NC_000001.11:31429470:A:G
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_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_000001.11:g.31429471A>G, NC_000001.10:g.31902318A>G, NG_055425.1:g.766A>G, NW_003571030.1:g.29560A>G, NM_178865.5:c.946A>G, NM_178865.4:c.946A>G, NM_018565.4:c.958A>G, NM_018565.3:c.958A>G, NM_001199039.2:c.781A>G, NM_001199039.1:c.781A>G, NM_001199037.2:c.958A>G, NM_001199037.1:c.958A>G, NM_001199038.2:c.973A>G, NM_001199038.1:c.973A>G, NP_849196.2:p.Thr316Ala, NP_061035.2:p.Thr320Ala, NP_001185968.1:p.Thr261Ala, NP_001185966.1:p.Thr320Ala, NP_001185967.1:p.Thr325Ala

Select item 142976218915.

rs1429762189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:31423745 (GRCh38)
1:31896592 (GRCh37)
Canonical SPDI:: NC_000001.11:31423744:C:A,NC_000001.11:31423744:C:T
Gene:: SERINC2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31423745C>A, NC_000001.11:g.31423745C>T, NC_000001.10:g.31896592C>A, NC_000001.10:g.31896592C>T, NW_003571030.1:g.23834C>A, NW_003571030.1:g.23834C>T, NM_178865.5:c.92C>A, NM_178865.5:c.92C>T, NM_178865.4:c.92C>A, NM_178865.4:c.92C>T, NM_018565.4:c.104C>A, NM_018565.4:c.104C>T, NM_018565.3:c.104C>A, NM_018565.3:c.104C>T, NM_001199039.2:c.-74C>A, NM_001199039.2:c.-74C>T, NM_001199039.1:c.-74C>A, NM_001199039.1:c.-74C>T, NM_001199037.2:c.104C>A, NM_001199037.2:c.104C>T, NM_001199037.1:c.104C>A, NM_001199037.1:c.104C>T, NM_001199038.2:c.119C>A, NM_001199038.2:c.119C>T, NM_001199038.1:c.119C>A, NM_001199038.1:c.119C>T, NP_849196.2:p.Ala31Asp, NP_849196.2:p.Ala31Val, NP_061035.2:p.Ala35Asp, NP_061035.2:p.Ala35Val, NP_001185966.1:p.Ala35Asp, NP_001185966.1:p.Ala35Val, NP_001185967.1:p.Ala40Asp, NP_001185967.1:p.Ala40Val

Select item 142819307516.

rs1428193075 has merged into rs374904971 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 1:31424808 (GRCh38)
1:31897655 (GRCh37)
Canonical SPDI:: NC_000001.11:31424798:CTTCTTCTTCTT:CTTCTTCTT
Gene:: SERINC2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCTTCTT=0.000174/4 (ALFA)
-=0.000038/3 (PAGE_STUDY)
-=0.000103/25 (GnomAD_exomes)
-=0.000106/2 (TOMMO)
-=0.000144/14 (ExAC)
-=0.000166/44 (TOPMED)
-=0.000257/36 (GnomAD)
HGVS:: NC_000001.11:g.31424799CTT[3], NC_000001.10:g.31897646CTT[3], NW_003571030.1:g.24888CTT[3], NM_178865.5:c.318CTT[3], NM_178865.4:c.318CTT[3], NM_018565.4:c.330CTT[3], NM_018565.3:c.330CTT[3], NM_001199039.2:c.153CTT[3], NM_001199039.1:c.153CTT[3], NM_001199037.2:c.330CTT[3], NM_001199037.1:c.330CTT[3], NM_001199038.2:c.345CTT[3], NM_001199038.1:c.345CTT[3], NP_849196.2:p.Phe111del, NP_061035.2:p.Phe115del, NP_001185968.1:p.Phe56del, NP_001185966.1:p.Phe115del, NP_001185967.1:p.Phe120del

Select item 142768310617.

rs1427683106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:31434128 (GRCh38)
1:31906975 (GRCh37)
Canonical SPDI:: NC_000001.11:31434127:T:A
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.31434128T>A, NC_000001.10:g.31906975T>A, NG_055425.1:g.5423T>A, NW_003571030.1:g.34217T>A, NM_178865.5:c.1297T>A, NM_178865.4:c.1297T>A, NM_018565.4:c.1309T>A, NM_018565.3:c.1309T>A, NM_001199039.2:c.1132T>A, NM_001199039.1:c.1132T>A, NM_001199037.2:c.1309T>A, NM_001199037.1:c.1309T>A, NM_001199038.2:c.1324T>A, NM_001199038.1:c.1324T>A, NP_849196.2:p.Trp433Arg, NP_061035.2:p.Trp437Arg, NP_001185968.1:p.Trp378Arg, NP_001185966.1:p.Trp437Arg, NP_001185967.1:p.Trp442Arg

Select item 142676798318.

rs1426767983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31429005 (GRCh38)
1:31901852 (GRCh37)
Canonical SPDI:: NC_000001.11:31429004:C:T
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.31429005C>T, NC_000001.10:g.31901852C>T, NG_055425.1:g.300C>T, NW_003571030.1:g.29094C>T, NM_178865.5:c.808C>T, NM_178865.4:c.808C>T, NM_018565.4:c.820C>T, NM_018565.3:c.820C>T, NM_001199039.2:c.643C>T, NM_001199039.1:c.643C>T, NM_001199037.2:c.820C>T, NM_001199037.1:c.820C>T, NM_001199038.2:c.835C>T, NM_001199038.1:c.835C>T, NP_849196.2:p.Gln270Ter, NP_061035.2:p.Gln274Ter, NP_001185968.1:p.Gln215Ter, NP_001185966.1:p.Gln274Ter, NP_001185967.1:p.Gln279Ter

Select item 142395398319.

rs1423953983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31425364 (GRCh38)
1:31898211 (GRCh37)
Canonical SPDI:: NC_000001.11:31425363:C:T
Gene:: SERINC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.31425364C>T, NC_000001.10:g.31898211C>T, NW_003571030.1:g.25453C>T, NM_178865.5:c.427C>T, NM_178865.4:c.427C>T, NM_018565.4:c.439C>T, NM_018565.3:c.439C>T, NM_001199039.2:c.262C>T, NM_001199039.1:c.262C>T, NM_001199037.2:c.439C>T, NM_001199037.1:c.439C>T, NM_001199038.2:c.454C>T, NM_001199038.1:c.454C>T, NP_849196.2:p.Leu143Phe, NP_061035.2:p.Leu147Phe, NP_001185968.1:p.Leu88Phe, NP_001185966.1:p.Leu147Phe, NP_001185967.1:p.Leu152Phe

Select item 141909938420.

rs1419099384 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:31429000 (GRCh38)
1:31901847 (GRCh37)
Canonical SPDI:: NC_000001.11:31428999:TG:
Gene:: SERINC2 (Varview), LOC124903900 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.31429000_31429001del, NC_000001.10:g.31901847_31901848del, NG_055425.1:g.295_296del, NW_003571030.1:g.29089_29090del, NM_178865.5:c.803_804del, NM_178865.4:c.803_804del, NM_018565.4:c.815_816del, NM_018565.3:c.815_816del, NM_001199039.2:c.638_639del, NM_001199039.1:c.638_639del, NM_001199037.2:c.815_816del, NM_001199037.1:c.815_816del, NM_001199038.2:c.830_831del, NM_001199038.1:c.830_831del, NP_849196.2:p.Leu268fs, NP_061035.2:p.Leu272fs, NP_001185968.1:p.Leu213fs, NP_001185966.1:p.Leu272fs, NP_001185967.1:p.Leu277fs

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