Canonical Allele Identifier: CA350685955

Gene: DES

Linked Data

• ClinVar Variation Id: 265811
• ClinVar RCV Id: RCV000491641 ; RCV001701986
• dbSNP Id: rs397516695
• gnomAD v4: 2-219418869-T-C
• MyVariant Identifiers: chr2:g.220283591T>C (hg19) ; chr2:g.219418869T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418869T>C , CM000664.2:g.219418869T>C	GRCh38
NC_000002.11:g.220283591T>C , CM000664.1:g.220283591T>C	GRCh37
NC_000002.10:g.219991835T>C	NCBI36
NG_008043.1:g.5493T>C , LRG_380:g.5493T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.407T>C MANE Select	ENSP00000363071.3:p.Leu136Pro
ENST00000373960.3:c.407T>C	ENSP00000363071.3:p.Leu136Pro
NM_001927.3:c.407T>C , LRG_380t1:c.407T>C	NP_001918.3:p.Leu136Pro
NM_001927.4:c.407T>C MANE Select	NP_001918.3:p.Leu136Pro
NM_001382708.1:c.407T>C	NP_001369637.1:p.Leu136Pro
NM_001382709.1:c.407T>C	NP_001369638.1:p.Leu136Pro
NM_001382710.1:c.407T>C	NP_001369639.1:p.Leu136Pro
NM_001382711.1:c.407T>C	NP_001369640.1:p.Leu136Pro
NM_001382712.1:c.407T>C	NP_001369641.1:p.Leu136Pro
NM_001382713.1:c.407T>C	NP_001369642.1:p.Leu136Pro