Canonical Allele Identifier: CA350685125

Gene: DES

Linked Data

• ClinVar Variation Id: 571967
• ClinVar RCV Id: RCV000693246
• dbSNP Id: rs1559352310
• gnomAD v4: 2-219418772-A-G
• MyVariant Identifiers: chr2:g.220283494A>G (hg19) ; chr2:g.219418772A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418772A>G , CM000664.2:g.219418772A>G	GRCh38
NC_000002.11:g.220283494A>G , CM000664.1:g.220283494A>G	GRCh37
NC_000002.10:g.219991738A>G	NCBI36
NG_008043.1:g.5396A>G , LRG_380:g.5396A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.310A>G MANE Select	ENSP00000363071.3:p.Thr104Ala
ENST00000373960.3:c.310A>G	ENSP00000363071.3:p.Thr104Ala
NM_001927.3:c.310A>G , LRG_380t1:c.310A>G	NP_001918.3:p.Thr104Ala
NM_001927.4:c.310A>G MANE Select	NP_001918.3:p.Thr104Ala
NM_001382708.1:c.310A>G	NP_001369637.1:p.Thr104Ala
NM_001382709.1:c.310A>G	NP_001369638.1:p.Thr104Ala
NM_001382710.1:c.310A>G	NP_001369639.1:p.Thr104Ala
NM_001382711.1:c.310A>G	NP_001369640.1:p.Thr104Ala
NM_001382712.1:c.310A>G	NP_001369641.1:p.Thr104Ala
NM_001382713.1:c.310A>G	NP_001369642.1:p.Thr104Ala