Canonical Allele Identifier: CA2125318

Gene: DES

Linked Data

• dbSNP Id: rs756984927
• ExAC: 2:220290684 C / A
• gnomAD v2: 2-220290684-C-A
• gnomAD v4: 2-219425962-C-A
• MyVariant Identifiers: chr2:g.220290684C>A (hg19) ; chr2:g.219425962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425962C>A , CM000664.2:g.219425962C>A	GRCh38
NC_000002.11:g.220290684C>A , CM000664.1:g.220290684C>A	GRCh37
NC_000002.10:g.219998928C>A	NCBI36
NG_008043.1:g.12586C>A , LRG_380:g.12586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.859C>A
ENST00000683013.1:n.773C>A
ENST00000373960.4:c.1385C>A MANE Select	ENSP00000363071.3:p.Ala462Asp
ENST00000373960.3:c.1385C>A	ENSP00000363071.3:p.Ala462Asp
ENST00000483395.1:n.240C>A
NM_001927.3:c.1385C>A , LRG_380t1:c.1385C>A	NP_001918.3:p.Ala462Asp
NM_001927.4:c.1385C>A MANE Select	NP_001918.3:p.Ala462Asp
NM_001382708.1:c.1382C>A	NP_001369637.1:p.Ala461Asp
NM_001382709.1:c.953C>A	NP_001369638.1:p.Ala318Asp
NM_001382710.1:c.1316C>A	NP_001369639.1:p.Ala439Asp
NM_001382711.1:c.1364C>A	NP_001369640.1:p.Ala455Asp
NM_001382712.1:c.1371+217C>A	NP_001369641.1:n.1371+217C>A
NM_001382713.1:c.1115C>A	NP_001369642.1:p.Ala372Asp