Canonical Allele Identifier: CA350698434

Gene: DES

Linked Data

• ClinVar Variation Id: 474286
• ClinVar RCV Id: RCV000534573
• dbSNP Id: rs1553603818
• MyVariant Identifiers: chr2:g.220290408T>G (hg19) ; chr2:g.219425686T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425686T>G , CM000664.2:g.219425686T>G	GRCh38
NC_000002.11:g.220290408T>G , CM000664.1:g.220290408T>G	GRCh37
NC_000002.10:g.219998652T>G	NCBI36
NG_008043.1:g.12310T>G , LRG_380:g.12310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.786T>G
ENST00000683013.1:n.700T>G
ENST00000373960.4:c.1312T>G MANE Select	ENSP00000363071.3:p.Ser438Ala
ENST00000373960.3:c.1312T>G	ENSP00000363071.3:p.Ser438Ala
ENST00000483395.1:n.167T>G
NM_001927.3:c.1312T>G , LRG_380t1:c.1312T>G	NP_001918.3:p.Ser438Ala
NM_001927.4:c.1312T>G MANE Select	NP_001918.3:p.Ser438Ala
NM_001382708.1:c.1309T>G	NP_001369637.1:p.Ser437Ala
NM_001382709.1:c.880T>G	NP_001369638.1:p.Ser294Ala
NM_001382710.1:c.1243T>G	NP_001369639.1:p.Ser415Ala
NM_001382711.1:c.1291T>G	NP_001369640.1:p.Ser431Ala
NM_001382712.1:c.1312T>G	NP_001369641.1:p.Ser438Ala
NM_001382713.1:c.1042T>G	NP_001369642.1:p.Ser348Ala