Canonical Allele Identifier: CA431285604

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290458G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425736G>A , CM000664.2:g.219425736G>A	GRCh38
NC_000002.11:g.220290458G>A , CM000664.1:g.220290458G>A	GRCh37
NC_000002.10:g.219998702G>A	NCBI36
NG_008043.1:g.12360G>A , LRG_380:g.12360G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.836G>A
ENST00000683013.1:n.750G>A
ENST00000373960.4:c.1362G>A MANE Select	ENSP00000363071.3:p.Arg454=
ENST00000373960.3:c.1362G>A	ENSP00000363071.3:p.Arg454=
ENST00000483395.1:n.217G>A
NM_001927.3:c.1362G>A , LRG_380t1:c.1362G>A	NP_001918.3:p.Arg454=
NM_001927.4:c.1362G>A MANE Select	NP_001918.3:p.Arg454=
NM_001382708.1:c.1359G>A	NP_001369637.1:p.Arg453=
NM_001382709.1:c.930G>A	NP_001369638.1:p.Arg310=
NM_001382710.1:c.1293G>A	NP_001369639.1:p.Arg431=
NM_001382711.1:c.1341G>A	NP_001369640.1:p.Arg447=
NM_001382712.1:c.1362G>A	NP_001369641.1:p.Arg454=
NM_001382713.1:c.1092G>A	NP_001369642.1:p.Arg364=