Canonical Allele Identifier: CA217003

Gene: DES

Linked Data

• ClinVar Variation Id: 16825
• ClinVar RCV Id: RCV000056765 ; RCV001044194
• dbSNP Id: rs57639980
• MyVariant Identifiers: chr2:g.220286072T>C (hg19) ; chr2:g.219421350T>C (hg38)
• PubMed: PMID:8114783 ; PMID:10545598

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421350T>C , CM000664.2:g.219421350T>C	GRCh38
NC_000002.11:g.220286072T>C , CM000664.1:g.220286072T>C	GRCh37
NC_000002.10:g.219994316T>C	NCBI36
NG_008043.1:g.7974T>C , LRG_380:g.7974T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.508T>C
ENST00000683013.1:n.422T>C
ENST00000373960.4:c.1034T>C MANE Select	ENSP00000363071.3:p.Leu345Pro
ENST00000373960.3:c.1034T>C	ENSP00000363071.3:p.Leu345Pro
ENST00000477226.5:n.506T>C
ENST00000492726.1:n.429T>C
NM_001927.3:c.1034T>C , LRG_380t1:c.1034T>C	NP_001918.3:p.Leu345Pro
NM_001927.4:c.1034T>C MANE Select	NP_001918.3:p.Leu345Pro
NM_001382708.1:c.1031T>C	NP_001369637.1:p.Leu344Pro
NM_001382709.1:c.736-134T>C	NP_001369638.1:n.736-134T>C
NM_001382710.1:c.1024-59T>C	NP_001369639.1:n.1024-59T>C
NM_001382711.1:c.1024-11T>C	NP_001369640.1:n.1024-11T>C
NM_001382712.1:c.1034T>C	NP_001369641.1:p.Leu345Pro
NM_001382713.1:c.764T>C	NP_001369642.1:p.Leu255Pro