Canonical Allele Identifier: CA217085

Gene: DES

Linked Data

• ClinVar Variation Id: 66420
• ClinVar RCV Id: RCV002226454 ; RCV002265590
• dbSNP Id: rs267607486
• MyVariant Identifiers: chr2:g.220285068G>C (hg19) ; chr2:g.219420346G>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420346G>C , CM000664.2:g.219420346G>C	GRCh38
NC_000002.11:g.220285068G>C , CM000664.1:g.220285068G>C	GRCh37
NC_000002.10:g.219993312G>C	NCBI36
NG_008043.1:g.6970G>C , LRG_380:g.6970G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.209G>C
ENST00000683013.1:n.123G>C
ENST00000373960.4:c.735G>C MANE Select	ENSP00000363071.3:p.Glu245Asp
ENST00000373960.3:c.735G>C	ENSP00000363071.3:p.Glu245Asp
ENST00000477226.5:n.207G>C
ENST00000492726.1:n.130G>C
NM_001927.3:c.735G>C , LRG_380t1:c.735G>C	NP_001918.3:p.Glu245Asp
NM_001927.4:c.735G>C MANE Select	NP_001918.3:p.Glu245Asp
NM_001382708.1:c.732G>C	NP_001369637.1:p.Glu244Asp
NM_001382709.1:c.735G>C	NP_001369638.1:p.Glu245Asp
NM_001382710.1:c.735G>C	NP_001369639.1:p.Glu245Asp
NM_001382711.1:c.735G>C	NP_001369640.1:p.Glu245Asp
NM_001382712.1:c.735G>C	NP_001369641.1:p.Glu245Asp
NM_001382713.1:c.496-179G>C	NP_001369642.1:n.496-179G>C