Canonical Allele Identifier: CA10606626

Gene: DES

Linked Data

• ClinVar Variation Id: 290014
• ClinVar RCV Id: RCV000296486 ; RCV000810748
• dbSNP Id: rs886044329
• MyVariant Identifiers: chr2:g.220290710T>C (hg19) ; chr2:g.219425988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425988T>C , CM000664.2:g.219425988T>C	GRCh38
NC_000002.11:g.220290710T>C , CM000664.1:g.220290710T>C	GRCh37
NC_000002.10:g.219998954T>C	NCBI36
NG_008043.1:g.12612T>C , LRG_380:g.12612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.885T>C
ENST00000683013.1:n.799T>C
ENST00000373960.4:c.1411T>C MANE Select	ENSP00000363071.3:p.Ter471Gln
ENST00000373960.3:c.1411T>C	ENSP00000363071.3:p.Ter471Gln
ENST00000483395.1:n.266T>C
NM_001927.3:c.1411T>C , LRG_380t1:c.1411T>C	NP_001918.3:p.Ter471Gln
NM_001927.4:c.1411T>C MANE Select	NP_001918.3:p.Ter471Gln
NM_001382708.1:c.1408T>C	NP_001369637.1:p.Ter470Gln
NM_001382709.1:c.979T>C	NP_001369638.1:p.Ter327Gln
NM_001382710.1:c.1342T>C	NP_001369639.1:p.Ter448Gln
NM_001382711.1:c.1390T>C	NP_001369640.1:p.Ter464Gln
NM_001382712.1:c.1371+243T>C	NP_001369641.1:n.1371+243T>C
NM_001382713.1:c.1141T>C	NP_001369642.1:p.Ter381Gln