Canonical Allele Identifier: CA350698627

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290436T>G (hg19) ; chr2:g.219425714T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425714T>G , CM000664.2:g.219425714T>G	GRCh38
NC_000002.11:g.220290436T>G , CM000664.1:g.220290436T>G	GRCh37
NC_000002.10:g.219998680T>G	NCBI36
NG_008043.1:g.12338T>G , LRG_380:g.12338T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.814T>G
ENST00000683013.1:n.728T>G
ENST00000373960.4:c.1340T>G MANE Select	ENSP00000363071.3:p.Met447Arg
ENST00000373960.3:c.1340T>G	ENSP00000363071.3:p.Met447Arg
ENST00000483395.1:n.195T>G
NM_001927.3:c.1340T>G , LRG_380t1:c.1340T>G	NP_001918.3:p.Met447Arg
NM_001927.4:c.1340T>G MANE Select	NP_001918.3:p.Met447Arg
NM_001382708.1:c.1337T>G	NP_001369637.1:p.Met446Arg
NM_001382709.1:c.908T>G	NP_001369638.1:p.Met303Arg
NM_001382710.1:c.1271T>G	NP_001369639.1:p.Met424Arg
NM_001382711.1:c.1319T>G	NP_001369640.1:p.Met440Arg
NM_001382712.1:c.1340T>G	NP_001369641.1:p.Met447Arg
NM_001382713.1:c.1070T>G	NP_001369642.1:p.Met357Arg