Canonical Allele Identifier: CA350695052

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286263C>G (hg19) ; chr2:g.219421541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421541C>G , CM000664.2:g.219421541C>G	GRCh38
NC_000002.11:g.220286263C>G , CM000664.1:g.220286263C>G	GRCh37
NC_000002.10:g.219994507C>G	NCBI36
NG_008043.1:g.8165C>G , LRG_380:g.8165C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.699C>G
ENST00000683013.1:n.613C>G
ENST00000373960.4:c.1225C>G MANE Select	ENSP00000363071.3:p.Leu409Val
ENST00000373960.3:c.1225C>G	ENSP00000363071.3:p.Leu409Val
ENST00000477226.5:n.697C>G
ENST00000492726.1:n.620C>G
NM_001927.3:c.1225C>G , LRG_380t1:c.1225C>G	NP_001918.3:p.Leu409Val
NM_001927.4:c.1225C>G MANE Select	NP_001918.3:p.Leu409Val
NM_001382708.1:c.1222C>G	NP_001369637.1:p.Leu408Val
NM_001382709.1:c.793C>G	NP_001369638.1:p.Leu265Val
NM_001382710.1:c.1156C>G	NP_001369639.1:p.Leu386Val
NM_001382711.1:c.1204C>G	NP_001369640.1:p.Leu402Val
NM_001382712.1:c.1225C>G	NP_001369641.1:p.Leu409Val
NM_001382713.1:c.955C>G	NP_001369642.1:p.Leu319Val