Canonical Allele Identifier: CA217005

Gene: DES

Linked Data

• ClinVar Variation Id: 66389
• ClinVar RCV Id: RCV000056768 ; RCV000799745
• dbSNP Id: rs61368398
• MyVariant Identifiers: chr2:g.220286102G>C (hg19) ; chr2:g.219421380G>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421380G>C , CM000664.2:g.219421380G>C	GRCh38
NC_000002.11:g.220286102G>C , CM000664.1:g.220286102G>C	GRCh37
NC_000002.10:g.219994346G>C	NCBI36
NG_008043.1:g.8004G>C , LRG_380:g.8004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.538G>C
ENST00000683013.1:n.452G>C
ENST00000373960.4:c.1064G>C MANE Select	ENSP00000363071.3:p.Arg355Pro
ENST00000373960.3:c.1064G>C	ENSP00000363071.3:p.Arg355Pro
ENST00000477226.5:n.536G>C
ENST00000492726.1:n.459G>C
NM_001927.3:c.1064G>C , LRG_380t1:c.1064G>C	NP_001918.3:p.Arg355Pro
NM_001927.4:c.1064G>C MANE Select	NP_001918.3:p.Arg355Pro
NM_001382708.1:c.1061G>C	NP_001369637.1:p.Arg354Pro
NM_001382709.1:c.736-104G>C	NP_001369638.1:n.736-104G>C
NM_001382710.1:c.1024-29G>C	NP_001369639.1:n.1024-29G>C
NM_001382711.1:c.1043G>C	NP_001369640.1:p.Arg348Pro
NM_001382712.1:c.1064G>C	NP_001369641.1:p.Arg355Pro
NM_001382713.1:c.794G>C	NP_001369642.1:p.Arg265Pro