Canonical Allele Identifier: CA350690712

Gene: DES

Linked Data

• dbSNP Id: rs1337952537
• gnomAD v2: 2-220285218-A-G
• gnomAD v4: 2-219420496-A-G
• MyVariant Identifiers: chr2:g.220285218A>G (hg19) ; chr2:g.219420496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420496A>G , CM000664.2:g.219420496A>G	GRCh38
NC_000002.11:g.220285218A>G , CM000664.1:g.220285218A>G	GRCh37
NC_000002.10:g.219993462A>G	NCBI36
NG_008043.1:g.7120A>G , LRG_380:g.7120A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.211A>G
ENST00000683013.1:n.125A>G
ENST00000373960.4:c.737A>G MANE Select	ENSP00000363071.3:p.Glu246Gly
ENST00000373960.3:c.737A>G	ENSP00000363071.3:p.Glu246Gly
ENST00000477226.5:n.209A>G
ENST00000492726.1:n.132A>G
NM_001927.3:c.737A>G , LRG_380t1:c.737A>G	NP_001918.3:p.Glu246Gly
NM_001927.4:c.737A>G MANE Select	NP_001918.3:p.Glu246Gly
NM_001382708.1:c.734A>G	NP_001369637.1:p.Glu245Gly
NM_001382709.1:c.735+150A>G	NP_001369638.1:n.735+150A>G
NM_001382710.1:c.737A>G	NP_001369639.1:p.Glu246Gly
NM_001382711.1:c.737A>G	NP_001369640.1:p.Glu246Gly
NM_001382712.1:c.737A>G	NP_001369641.1:p.Glu246Gly
NM_001382713.1:c.496-29A>G	NP_001369642.1:n.496-29A>G