Canonical Allele Identifier: CA2125176

Gene: DES

Linked Data

• dbSNP Id: rs769305726
• ExAC: 2:220285411 G / A
• gnomAD v2: 2-220285411-G-A
• gnomAD v4: 2-219420689-G-A
• MyVariant Identifiers: chr2:g.220285411G>A (hg19) ; chr2:g.219420689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420689G>A , CM000664.2:g.219420689G>A	GRCh38
NC_000002.11:g.220285411G>A , CM000664.1:g.220285411G>A	GRCh37
NC_000002.10:g.219993655G>A	NCBI36
NG_008043.1:g.7313G>A , LRG_380:g.7313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.371+33G>A
ENST00000683013.1:n.285+33G>A
ENST00000373960.4:c.897+33G>A MANE Select	ENSP00000363071.3:n.897+33G>A
ENST00000373960.3:c.897+33G>A	ENSP00000363071.3:n.897+33G>A
ENST00000477226.5:n.369+33G>A
ENST00000492726.1:n.292+33G>A
NM_001927.3:c.897+33G>A , LRG_380t1:c.897+33G>A	NP_001918.3:n.897+33G>A
NM_001927.4:c.897+33G>A MANE Select	NP_001918.3:n.897+33G>A
NM_001382708.1:c.894+33G>A	NP_001369637.1:n.894+33G>A
NM_001382709.1:c.735+343G>A	NP_001369638.1:n.735+343G>A
NM_001382710.1:c.897+33G>A	NP_001369639.1:n.897+33G>A
NM_001382711.1:c.897+33G>A	NP_001369640.1:n.897+33G>A
NM_001382712.1:c.897+33G>A	NP_001369641.1:n.897+33G>A
NM_001382713.1:c.627+33G>A	NP_001369642.1:n.627+33G>A