Canonical Allele Identifier: CA431427872

Gene: DES

Linked Data

• dbSNP Id: rs1954418938
• COSMIC: COSM719879
• MyVariant Identifiers: chr2:g.220285264G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420542G>A , CM000664.2:g.219420542G>A	GRCh38
NC_000002.11:g.220285264G>A , CM000664.1:g.220285264G>A	GRCh37
NC_000002.10:g.219993508G>A	NCBI36
NG_008043.1:g.7166G>A , LRG_380:g.7166G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.257G>A
ENST00000683013.1:n.171G>A
ENST00000373960.4:c.783G>A MANE Select	ENSP00000363071.3:p.Val261=
ENST00000373960.3:c.783G>A	ENSP00000363071.3:p.Val261=
ENST00000477226.5:n.255G>A
ENST00000492726.1:n.178G>A
NM_001927.3:c.783G>A , LRG_380t1:c.783G>A	NP_001918.3:p.Val261=
NM_001927.4:c.783G>A MANE Select	NP_001918.3:p.Val261=
NM_001382708.1:c.780G>A	NP_001369637.1:p.Val260=
NM_001382709.1:c.735+196G>A	NP_001369638.1:n.735+196G>A
NM_001382710.1:c.783G>A	NP_001369639.1:p.Val261=
NM_001382711.1:c.783G>A	NP_001369640.1:p.Val261=
NM_001382712.1:c.783G>A	NP_001369641.1:p.Val261=
NM_001382713.1:c.513G>A	NP_001369642.1:p.Val171=