Canonical Allele Identifier: CA350694788

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286213T>A (hg19) ; chr2:g.219421491T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421491T>A , CM000664.2:g.219421491T>A	GRCh38
NC_000002.11:g.220286213T>A , CM000664.1:g.220286213T>A	GRCh37
NC_000002.10:g.219994457T>A	NCBI36
NG_008043.1:g.8115T>A , LRG_380:g.8115T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.649T>A
ENST00000683013.1:n.563T>A
ENST00000373960.4:c.1175T>A MANE Select	ENSP00000363071.3:p.Leu392His
ENST00000373960.3:c.1175T>A	ENSP00000363071.3:p.Leu392His
ENST00000477226.5:n.647T>A
ENST00000492726.1:n.570T>A
NM_001927.3:c.1175T>A , LRG_380t1:c.1175T>A	NP_001918.3:p.Leu392His
NM_001927.4:c.1175T>A MANE Select	NP_001918.3:p.Leu392His
NM_001382708.1:c.1172T>A	NP_001369637.1:p.Leu391His
NM_001382709.1:c.743T>A	NP_001369638.1:p.Leu248His
NM_001382710.1:c.1106T>A	NP_001369639.1:p.Leu369His
NM_001382711.1:c.1154T>A	NP_001369640.1:p.Leu385His
NM_001382712.1:c.1175T>A	NP_001369641.1:p.Leu392His
NM_001382713.1:c.905T>A	NP_001369642.1:p.Leu302His