Canonical Allele Identifier: CA350695047

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286261T>G (hg19) ; chr2:g.219421539T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421539T>G , CM000664.2:g.219421539T>G	GRCh38
NC_000002.11:g.220286261T>G , CM000664.1:g.220286261T>G	GRCh37
NC_000002.10:g.219994505T>G	NCBI36
NG_008043.1:g.8163T>G , LRG_380:g.8163T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.697T>G
ENST00000683013.1:n.611T>G
ENST00000373960.4:c.1223T>G MANE Select	ENSP00000363071.3:p.Leu408Arg
ENST00000373960.3:c.1223T>G	ENSP00000363071.3:p.Leu408Arg
ENST00000477226.5:n.695T>G
ENST00000492726.1:n.618T>G
NM_001927.3:c.1223T>G , LRG_380t1:c.1223T>G	NP_001918.3:p.Leu408Arg
NM_001927.4:c.1223T>G MANE Select	NP_001918.3:p.Leu408Arg
NM_001382708.1:c.1220T>G	NP_001369637.1:p.Leu407Arg
NM_001382709.1:c.791T>G	NP_001369638.1:p.Leu264Arg
NM_001382710.1:c.1154T>G	NP_001369639.1:p.Leu385Arg
NM_001382711.1:c.1202T>G	NP_001369640.1:p.Leu401Arg
NM_001382712.1:c.1223T>G	NP_001369641.1:p.Leu408Arg
NM_001382713.1:c.953T>G	NP_001369642.1:p.Leu318Arg