Canonical Allele Identifier: CA431285637

Gene: DES

Linked Data

• gnomAD v4: 2-219425966-A-G
• MyVariant Identifiers: chr2:g.220290688A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425966A>G , CM000664.2:g.219425966A>G	GRCh38
NC_000002.11:g.220290688A>G , CM000664.1:g.220290688A>G	GRCh37
NC_000002.10:g.219998932A>G	NCBI36
NG_008043.1:g.12590A>G , LRG_380:g.12590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.863A>G
ENST00000683013.1:n.777A>G
ENST00000373960.4:c.1389A>G MANE Select	ENSP00000363071.3:p.Thr463=
ENST00000373960.3:c.1389A>G	ENSP00000363071.3:p.Thr463=
ENST00000483395.1:n.244A>G
NM_001927.3:c.1389A>G , LRG_380t1:c.1389A>G	NP_001918.3:p.Thr463=
NM_001927.4:c.1389A>G MANE Select	NP_001918.3:p.Thr463=
NM_001382708.1:c.1386A>G	NP_001369637.1:p.Thr462=
NM_001382709.1:c.957A>G	NP_001369638.1:p.Thr319=
NM_001382710.1:c.1320A>G	NP_001369639.1:p.Thr440=
NM_001382711.1:c.1368A>G	NP_001369640.1:p.Thr456=
NM_001382712.1:c.1371+221A>G	NP_001369641.1:n.1371+221A>G
NM_001382713.1:c.1119A>G	NP_001369642.1:p.Thr373=