Canonical Allele Identifier: CA350695006

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286252A>G (hg19) ; chr2:g.219421530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421530A>G , CM000664.2:g.219421530A>G	GRCh38
NC_000002.11:g.220286252A>G , CM000664.1:g.220286252A>G	GRCh37
NC_000002.10:g.219994496A>G	NCBI36
NG_008043.1:g.8154A>G , LRG_380:g.8154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.688A>G
ENST00000683013.1:n.602A>G
ENST00000373960.4:c.1214A>G MANE Select	ENSP00000363071.3:p.Tyr405Cys
ENST00000373960.3:c.1214A>G	ENSP00000363071.3:p.Tyr405Cys
ENST00000477226.5:n.686A>G
ENST00000492726.1:n.609A>G
NM_001927.3:c.1214A>G , LRG_380t1:c.1214A>G	NP_001918.3:p.Tyr405Cys
NM_001927.4:c.1214A>G MANE Select	NP_001918.3:p.Tyr405Cys
NM_001382708.1:c.1211A>G	NP_001369637.1:p.Tyr404Cys
NM_001382709.1:c.782A>G	NP_001369638.1:p.Tyr261Cys
NM_001382710.1:c.1145A>G	NP_001369639.1:p.Tyr382Cys
NM_001382711.1:c.1193A>G	NP_001369640.1:p.Tyr398Cys
NM_001382712.1:c.1214A>G	NP_001369641.1:p.Tyr405Cys
NM_001382713.1:c.944A>G	NP_001369642.1:p.Tyr315Cys