Canonical Allele Identifier: CA350699040

Gene: DES

Linked Data

• ClinVar Variation Id: 1401572
• ClinVar RCV Id: RCV001912944
• dbSNP Id: rs2125172262
• MyVariant Identifiers: chr2:g.220290689C>T (hg19) ; chr2:g.219425967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425967C>T , CM000664.2:g.219425967C>T	GRCh38
NC_000002.11:g.220290689C>T , CM000664.1:g.220290689C>T	GRCh37
NC_000002.10:g.219998933C>T	NCBI36
NG_008043.1:g.12591C>T , LRG_380:g.12591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.864C>T
ENST00000683013.1:n.778C>T
ENST00000373960.4:c.1390C>T MANE Select	ENSP00000363071.3:p.Gln464Ter
ENST00000373960.3:c.1390C>T	ENSP00000363071.3:p.Gln464Ter
ENST00000483395.1:n.245C>T
NM_001927.3:c.1390C>T , LRG_380t1:c.1390C>T	NP_001918.3:p.Gln464Ter
NM_001927.4:c.1390C>T MANE Select	NP_001918.3:p.Gln464Ter
NM_001382708.1:c.1387C>T	NP_001369637.1:p.Gln463Ter
NM_001382709.1:c.958C>T	NP_001369638.1:p.Gln320Ter
NM_001382710.1:c.1321C>T	NP_001369639.1:p.Gln441Ter
NM_001382711.1:c.1369C>T	NP_001369640.1:p.Gln457Ter
NM_001382712.1:c.1371+222C>T	NP_001369641.1:n.1371+222C>T
NM_001382713.1:c.1120C>T	NP_001369642.1:p.Gln374Ter