Canonical Allele Identifier: CA538957075

Gene: ALS2

Linked Data

• dbSNP Id: rs1317051984
• gnomAD v2: 2-202588159-T-TC
• gnomAD v3: 2-201723436-T-TC
• gnomAD v4: 2-201723436-T-TC
• COSMIC: COSM4661294
• MyVariant Identifiers: chr2:g.202588159_202588160insC (hg19) ; chr2:g.201723436_201723437insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723442dup , CM000664.2:g.201723442dup	GRCh38
NC_000002.11:g.202588165dup , CM000664.1:g.202588165dup	GRCh37
NC_000002.10:g.202296410dup	NCBI36
NG_008775.1:g.62736dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3517dup
ENST00000439495.6:c.1195dup
ENST00000482891.6:n.4285dup
ENST00000494017.6:n.1249dup
ENST00000679409.1:c.1195dup
ENST00000679416.1:n.5021dup
ENST00000679435.1:c.3517dup
ENST00000679516.1:c.3517dup
ENST00000679618.1:c.*605dup
ENST00000679630.1:n.5366dup
ENST00000679686.1:n.3631dup
ENST00000679701.1:n.6509dup
ENST00000679916.1:c.3517dup
ENST00000680000.1:c.3517dup
ENST00000680135.1:c.*1481dup
ENST00000680149.1:c.3517dup
ENST00000680163.1:c.3517dup
ENST00000680174.1:n.4208dup
ENST00000680236.1:c.*578dup
ENST00000680497.1:c.3619dup
ENST00000680508.1:c.3517dup
ENST00000680569.1:c.*1228dup
ENST00000680630.1:n.3949dup
ENST00000680634.1:n.21-2948dup
ENST00000680722.1:n.1317dup
ENST00000680723.1:n.4300dup
ENST00000680726.1:c.3517dup
ENST00000680737.1:n.3788dup
ENST00000680759.1:c.3517dup
ENST00000680814.1:c.3517dup
ENST00000680828.1:c.*1089dup
ENST00000680861.1:c.3517dup
ENST00000680927.1:c.3517dup
ENST00000680939.1:n.3859dup
ENST00000681152.1:c.3517dup
ENST00000681250.1:c.*234dup
ENST00000681256.1:c.*1535dup
ENST00000681279.1:n.4285dup
ENST00000681303.1:c.3517dup
ENST00000681307.1:n.4630dup
ENST00000681461.1:n.4285dup
ENST00000681495.1:c.1057dup
ENST00000681558.1:c.1195dup
ENST00000681619.1:c.3517dup
ENST00000681716.1:c.*1228dup
ENST00000681758.1:n.3859dup
ENST00000681768.1:c.*1181dup
ENST00000681808.1:c.3517dup
ENST00000264276.10:c.3517dup
ENST00000439495.5:c.1478dup
ENST00000482891.5:n.3657dup
ENST00000489440.5:n.338dup
NM_020919.3:c.3517dup
XM_005246709.2:c.3517dup
XM_006712654.1:c.3517dup
XM_006712655.2:c.1453dup
XM_011511530.1:c.3178dup
XM_011511531.1:c.3517dup
XR_922974.1:n.3652dup
XM_006712654.3:c.3517dup
XM_006712655.3:c.1453dup
XM_017004569.2:c.3517dup
XM_017004570.2:c.3517dup
XM_017004572.2:c.1135dup
XM_024453024.1:c.3178dup
XM_024453025.1:c.1453dup
XR_001738864.2:n.3652dup
XR_001738865.2:n.3652dup
XR_001738866.2:n.3652dup
XR_001738867.2:n.3652dup
XR_002959320.1:n.2708dup
NM_020919.4:c.3517dup