Canonical Allele Identifier: CA350687054

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220283732T>A (hg19) ; chr2:g.219419010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419010T>A , CM000664.2:g.219419010T>A	GRCh38
NC_000002.11:g.220283732T>A , CM000664.1:g.220283732T>A	GRCh37
NC_000002.10:g.219991976T>A	NCBI36
NG_008043.1:g.5634T>A , LRG_380:g.5634T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.548T>A MANE Select	ENSP00000363071.3:p.Leu183Gln
ENST00000373960.3:c.548T>A	ENSP00000363071.3:p.Leu183Gln
NM_001927.3:c.548T>A , LRG_380t1:c.548T>A	NP_001918.3:p.Leu183Gln
NM_001927.4:c.548T>A MANE Select	NP_001918.3:p.Leu183Gln
NM_001382708.1:c.548T>A	NP_001369637.1:p.Leu183Gln
NM_001382709.1:c.548T>A	NP_001369638.1:p.Leu183Gln
NM_001382710.1:c.548T>A	NP_001369639.1:p.Leu183Gln
NM_001382711.1:c.548T>A	NP_001369640.1:p.Leu183Gln
NM_001382712.1:c.548T>A	NP_001369641.1:p.Leu183Gln
NM_001382713.1:c.495+53T>A	NP_001369642.1:n.495+53T>A