Canonical Allele Identifier: CA350699008

Gene: DES

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.859C>T
ENST00000683013.1:n.773C>T
ENST00000373960.4:c.1385C>T MANE Select	ENSP00000363071.3:p.Ala462Val
ENST00000373960.3:c.1385C>T	ENSP00000363071.3:p.Ala462Val
ENST00000483395.1:n.240C>T
NM_001927.3:c.1385C>T , LRG_380t1:c.1385C>T	NP_001918.3:p.Ala462Val
NM_001927.4:c.1385C>T MANE Select	NP_001918.3:p.Ala462Val
NM_001382708.1:c.1382C>T	NP_001369637.1:p.Ala461Val
NM_001382709.1:c.953C>T	NP_001369638.1:p.Ala318Val
NM_001382710.1:c.1316C>T	NP_001369639.1:p.Ala439Val
NM_001382711.1:c.1364C>T	NP_001369640.1:p.Ala455Val
NM_001382712.1:c.1371+217C>T	NP_001369641.1:n.1371+217C>T
NM_001382713.1:c.1115C>T	NP_001369642.1:p.Ala372Val