Canonical Allele Identifier: CA431285611

Gene: DES

Linked Data

• gnomAD v4: 2-219425951-C-A
• MyVariant Identifiers: chr2:g.220290673C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425951C>A , CM000664.2:g.219425951C>A	GRCh38
NC_000002.11:g.220290673C>A , CM000664.1:g.220290673C>A	GRCh37
NC_000002.10:g.219998917C>A	NCBI36
NG_008043.1:g.12575C>A , LRG_380:g.12575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.848C>A
ENST00000683013.1:n.762C>A
ENST00000373960.4:c.1374C>A MANE Select	ENSP00000363071.3:p.Val458=
ENST00000373960.3:c.1374C>A	ENSP00000363071.3:p.Val458=
ENST00000483395.1:n.229C>A
NM_001927.3:c.1374C>A , LRG_380t1:c.1374C>A	NP_001918.3:p.Val458=
NM_001927.4:c.1374C>A MANE Select	NP_001918.3:p.Val458=
NM_001382708.1:c.1371C>A	NP_001369637.1:p.Val457=
NM_001382709.1:c.942C>A	NP_001369638.1:p.Val314=
NM_001382710.1:c.1305C>A	NP_001369639.1:p.Val435=
NM_001382711.1:c.1353C>A	NP_001369640.1:p.Val451=
NM_001382712.1:c.1371+206C>A	NP_001369641.1:n.1371+206C>A
NM_001382713.1:c.1104C>A	NP_001369642.1:p.Val368=