Canonical Allele Identifier: CA350694529

Gene: DES

Linked Data

• dbSNP Id: rs779749720
• gnomAD v2: 2-220286180-T-A
• MyVariant Identifiers: chr2:g.220286180T>A (hg19) ; chr2:g.219421458T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421458T>A , CM000664.2:g.219421458T>A	GRCh38
NC_000002.11:g.220286180T>A , CM000664.1:g.220286180T>A	GRCh37
NC_000002.10:g.219994424T>A	NCBI36
NG_008043.1:g.8082T>A , LRG_380:g.8082T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.616T>A
ENST00000683013.1:n.530T>A
ENST00000373960.4:c.1142T>A MANE Select	ENSP00000363071.3:p.Met381Lys
ENST00000373960.3:c.1142T>A	ENSP00000363071.3:p.Met381Lys
ENST00000477226.5:n.614T>A
ENST00000492726.1:n.537T>A
NM_001927.3:c.1142T>A , LRG_380t1:c.1142T>A	NP_001918.3:p.Met381Lys
NM_001927.4:c.1142T>A MANE Select	NP_001918.3:p.Met381Lys
NM_001382708.1:c.1139T>A	NP_001369637.1:p.Met380Lys
NM_001382709.1:c.736-26T>A	NP_001369638.1:n.736-26T>A
NM_001382710.1:c.1073T>A	NP_001369639.1:p.Met358Lys
NM_001382711.1:c.1121T>A	NP_001369640.1:p.Met374Lys
NM_001382712.1:c.1142T>A	NP_001369641.1:p.Met381Lys
NM_001382713.1:c.872T>A	NP_001369642.1:p.Met291Lys