Canonical Allele Identifier: CA350690716

Gene: DES

Linked Data

• ClinVar Variation Id: 835925
• ClinVar RCV Id: RCV001036926
• dbSNP Id: rs1954417703
• MyVariant Identifiers: chr2:g.220285219G>C (hg19) ; chr2:g.219420497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420497G>C , CM000664.2:g.219420497G>C	GRCh38
NC_000002.11:g.220285219G>C , CM000664.1:g.220285219G>C	GRCh37
NC_000002.10:g.219993463G>C	NCBI36
NG_008043.1:g.7121G>C , LRG_380:g.7121G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.212G>C
ENST00000683013.1:n.126G>C
ENST00000373960.4:c.738G>C MANE Select	ENSP00000363071.3:p.Glu246Asp
ENST00000373960.3:c.738G>C	ENSP00000363071.3:p.Glu246Asp
ENST00000477226.5:n.210G>C
ENST00000492726.1:n.133G>C
NM_001927.3:c.738G>C , LRG_380t1:c.738G>C	NP_001918.3:p.Glu246Asp
NM_001927.4:c.738G>C MANE Select	NP_001918.3:p.Glu246Asp
NM_001382708.1:c.735G>C	NP_001369637.1:p.Glu245Asp
NM_001382709.1:c.735+151G>C	NP_001369638.1:n.735+151G>C
NM_001382710.1:c.738G>C	NP_001369639.1:p.Glu246Asp
NM_001382711.1:c.738G>C	NP_001369640.1:p.Glu246Asp
NM_001382712.1:c.738G>C	NP_001369641.1:p.Glu246Asp
NM_001382713.1:c.496-28G>C	NP_001369642.1:n.496-28G>C