Canonical Allele Identifier: CA350691129

Gene: DES

Linked Data

• gnomAD v4: 2-219420553-T-G
• MyVariant Identifiers: chr2:g.220285275T>G (hg19) ; chr2:g.219420553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420553T>G , CM000664.2:g.219420553T>G	GRCh38
NC_000002.11:g.220285275T>G , CM000664.1:g.220285275T>G	GRCh37
NC_000002.10:g.219993519T>G	NCBI36
NG_008043.1:g.7177T>G , LRG_380:g.7177T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.268T>G
ENST00000683013.1:n.182T>G
ENST00000373960.4:c.794T>G MANE Select	ENSP00000363071.3:p.Met265Arg
ENST00000373960.3:c.794T>G	ENSP00000363071.3:p.Met265Arg
ENST00000477226.5:n.266T>G
ENST00000492726.1:n.189T>G
NM_001927.3:c.794T>G , LRG_380t1:c.794T>G	NP_001918.3:p.Met265Arg
NM_001927.4:c.794T>G MANE Select	NP_001918.3:p.Met265Arg
NM_001382708.1:c.791T>G	NP_001369637.1:p.Met264Arg
NM_001382709.1:c.735+207T>G	NP_001369638.1:n.735+207T>G
NM_001382710.1:c.794T>G	NP_001369639.1:p.Met265Arg
NM_001382711.1:c.794T>G	NP_001369640.1:p.Met265Arg
NM_001382712.1:c.794T>G	NP_001369641.1:p.Met265Arg
NM_001382713.1:c.524T>G	NP_001369642.1:p.Met175Arg