Canonical Allele Identifier: CA350698952

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290677A>G (hg19) ; chr2:g.219425955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425955A>G , CM000664.2:g.219425955A>G	GRCh38
NC_000002.11:g.220290677A>G , CM000664.1:g.220290677A>G	GRCh37
NC_000002.10:g.219998921A>G	NCBI36
NG_008043.1:g.12579A>G , LRG_380:g.12579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.852A>G
ENST00000683013.1:n.766A>G
ENST00000373960.4:c.1378A>G MANE Select	ENSP00000363071.3:p.Ser460Gly
ENST00000373960.3:c.1378A>G	ENSP00000363071.3:p.Ser460Gly
ENST00000483395.1:n.233A>G
NM_001927.3:c.1378A>G , LRG_380t1:c.1378A>G	NP_001918.3:p.Ser460Gly
NM_001927.4:c.1378A>G MANE Select	NP_001918.3:p.Ser460Gly
NM_001382708.1:c.1375A>G	NP_001369637.1:p.Ser459Gly
NM_001382709.1:c.946A>G	NP_001369638.1:p.Ser316Gly
NM_001382710.1:c.1309A>G	NP_001369639.1:p.Ser437Gly
NM_001382711.1:c.1357A>G	NP_001369640.1:p.Ser453Gly
NM_001382712.1:c.1371+210A>G	NP_001369641.1:n.1371+210A>G
NM_001382713.1:c.1108A>G	NP_001369642.1:p.Ser370Gly