Canonical Allele Identifier: CA431285598

Gene: DES

Linked Data

• gnomAD v4: 2-219425730-G-A
• MyVariant Identifiers: chr2:g.220290452G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425730G>A , CM000664.2:g.219425730G>A	GRCh38
NC_000002.11:g.220290452G>A , CM000664.1:g.220290452G>A	GRCh37
NC_000002.10:g.219998696G>A	NCBI36
NG_008043.1:g.12354G>A , LRG_380:g.12354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.830G>A
ENST00000683013.1:n.744G>A
ENST00000373960.4:c.1356G>A MANE Select	ENSP00000363071.3:p.Glu452=
ENST00000373960.3:c.1356G>A	ENSP00000363071.3:p.Glu452=
ENST00000483395.1:n.211G>A
NM_001927.3:c.1356G>A , LRG_380t1:c.1356G>A	NP_001918.3:p.Glu452=
NM_001927.4:c.1356G>A MANE Select	NP_001918.3:p.Glu452=
NM_001382708.1:c.1353G>A	NP_001369637.1:p.Glu451=
NM_001382709.1:c.924G>A	NP_001369638.1:p.Glu308=
NM_001382710.1:c.1287G>A	NP_001369639.1:p.Glu429=
NM_001382711.1:c.1335G>A	NP_001369640.1:p.Glu445=
NM_001382712.1:c.1356G>A	NP_001369641.1:p.Glu452=
NM_001382713.1:c.1086G>A	NP_001369642.1:p.Glu362=