Canonical Allele Identifier: CA350698288

Gene: DES

Linked Data

• gnomAD v4: 2-219425668-A-G
• MyVariant Identifiers: chr2:g.220290390A>G (hg19) ; chr2:g.219425668A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425668A>G , CM000664.2:g.219425668A>G	GRCh38
NC_000002.11:g.220290390A>G , CM000664.1:g.220290390A>G	GRCh37
NC_000002.10:g.219998634A>G	NCBI36
NG_008043.1:g.12292A>G , LRG_380:g.12292A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.768A>G
ENST00000683013.1:n.682A>G
ENST00000373960.4:c.1294A>G MANE Select	ENSP00000363071.3:p.Ser432Gly
ENST00000373960.3:c.1294A>G	ENSP00000363071.3:p.Ser432Gly
ENST00000483395.1:n.149A>G
NM_001927.3:c.1294A>G , LRG_380t1:c.1294A>G	NP_001918.3:p.Ser432Gly
NM_001927.4:c.1294A>G MANE Select	NP_001918.3:p.Ser432Gly
NM_001382708.1:c.1291A>G	NP_001369637.1:p.Ser431Gly
NM_001382709.1:c.862A>G	NP_001369638.1:p.Ser288Gly
NM_001382710.1:c.1225A>G	NP_001369639.1:p.Ser409Gly
NM_001382711.1:c.1273A>G	NP_001369640.1:p.Ser425Gly
NM_001382712.1:c.1294A>G	NP_001369641.1:p.Ser432Gly
NM_001382713.1:c.1024A>G	NP_001369642.1:p.Ser342Gly