Canonical Allele Identifier: CA350698312

Gene: DES

Linked Data

• gnomAD v4: 2-219425670-C-A
• MyVariant Identifiers: chr2:g.220290392C>A (hg19) ; chr2:g.219425670C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425670C>A , CM000664.2:g.219425670C>A	GRCh38
NC_000002.11:g.220290392C>A , CM000664.1:g.220290392C>A	GRCh37
NC_000002.10:g.219998636C>A	NCBI36
NG_008043.1:g.12294C>A , LRG_380:g.12294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.770C>A
ENST00000683013.1:n.684C>A
ENST00000373960.4:c.1296C>A MANE Select	ENSP00000363071.3:p.Ser432Arg
ENST00000373960.3:c.1296C>A	ENSP00000363071.3:p.Ser432Arg
ENST00000483395.1:n.151C>A
NM_001927.3:c.1296C>A , LRG_380t1:c.1296C>A	NP_001918.3:p.Ser432Arg
NM_001927.4:c.1296C>A MANE Select	NP_001918.3:p.Ser432Arg
NM_001382708.1:c.1293C>A	NP_001369637.1:p.Ser431Arg
NM_001382709.1:c.864C>A	NP_001369638.1:p.Ser288Arg
NM_001382710.1:c.1227C>A	NP_001369639.1:p.Ser409Arg
NM_001382711.1:c.1275C>A	NP_001369640.1:p.Ser425Arg
NM_001382712.1:c.1296C>A	NP_001369641.1:p.Ser432Arg
NM_001382713.1:c.1026C>A	NP_001369642.1:p.Ser342Arg