Canonical Allele Identifier: CA350694779

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286212C>A (hg19) ; chr2:g.219421490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421490C>A , CM000664.2:g.219421490C>A	GRCh38
NC_000002.11:g.220286212C>A , CM000664.1:g.220286212C>A	GRCh37
NC_000002.10:g.219994456C>A	NCBI36
NG_008043.1:g.8114C>A , LRG_380:g.8114C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.648C>A
ENST00000683013.1:n.562C>A
ENST00000373960.4:c.1174C>A MANE Select	ENSP00000363071.3:p.Leu392Ile
ENST00000373960.3:c.1174C>A	ENSP00000363071.3:p.Leu392Ile
ENST00000477226.5:n.646C>A
ENST00000492726.1:n.569C>A
NM_001927.3:c.1174C>A , LRG_380t1:c.1174C>A	NP_001918.3:p.Leu392Ile
NM_001927.4:c.1174C>A MANE Select	NP_001918.3:p.Leu392Ile
NM_001382708.1:c.1171C>A	NP_001369637.1:p.Leu391Ile
NM_001382709.1:c.742C>A	NP_001369638.1:p.Leu248Ile
NM_001382710.1:c.1105C>A	NP_001369639.1:p.Leu369Ile
NM_001382711.1:c.1153C>A	NP_001369640.1:p.Leu385Ile
NM_001382712.1:c.1174C>A	NP_001369641.1:p.Leu392Ile
NM_001382713.1:c.904C>A	NP_001369642.1:p.Leu302Ile