Canonical Allele Identifier: CA350685162

Gene: DES

Linked Data

• ClinVar Variation Id: 1044957
• ClinVar RCV Id: RCV001349290
• dbSNP Id: rs1406795636
• gnomAD v4: 2-219418776-G-T
• MyVariant Identifiers: chr2:g.220283498G>T (hg19) ; chr2:g.219418776G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418776G>T , CM000664.2:g.219418776G>T	GRCh38
NC_000002.11:g.220283498G>T , CM000664.1:g.220283498G>T	GRCh37
NC_000002.10:g.219991742G>T	NCBI36
NG_008043.1:g.5400G>T , LRG_380:g.5400G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.314G>T MANE Select	ENSP00000363071.3:p.Arg105Leu
ENST00000373960.3:c.314G>T	ENSP00000363071.3:p.Arg105Leu
NM_001927.3:c.314G>T , LRG_380t1:c.314G>T	NP_001918.3:p.Arg105Leu
NM_001927.4:c.314G>T MANE Select	NP_001918.3:p.Arg105Leu
NM_001382708.1:c.314G>T	NP_001369637.1:p.Arg105Leu
NM_001382709.1:c.314G>T	NP_001369638.1:p.Arg105Leu
NM_001382710.1:c.314G>T	NP_001369639.1:p.Arg105Leu
NM_001382711.1:c.314G>T	NP_001369640.1:p.Arg105Leu
NM_001382712.1:c.314G>T	NP_001369641.1:p.Arg105Leu
NM_001382713.1:c.314G>T	NP_001369642.1:p.Arg105Leu