Canonical Allele Identifier: CA2125241

Gene: DES

Linked Data

• ClinVar Variation Id: 846623
• ClinVar RCV Id: RCV001049965 ; RCV002429640 ; RCV003145294
• dbSNP Id: rs371830218
• ExAC: 2:220286141 C / T
• gnomAD v2: 2-220286141-C-T
• gnomAD v3: 2-219421419-C-T
• gnomAD v4: 2-219421419-C-T
• COSMIC: COSM3044978
• MyVariant Identifiers: chr2:g.220286141C>T (hg19) ; chr2:g.219421419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421419C>T , CM000664.2:g.219421419C>T	GRCh38
NC_000002.11:g.220286141C>T , CM000664.1:g.220286141C>T	GRCh37
NC_000002.10:g.219994385C>T	NCBI36
NG_008043.1:g.8043C>T , LRG_380:g.8043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.577C>T
ENST00000683013.1:n.491C>T
ENST00000373960.4:c.1103C>T MANE Select	ENSP00000363071.3:p.Ala368Val
ENST00000373960.3:c.1103C>T	ENSP00000363071.3:p.Ala368Val
ENST00000477226.5:n.575C>T
ENST00000492726.1:n.498C>T
NM_001927.3:c.1103C>T , LRG_380t1:c.1103C>T	NP_001918.3:p.Ala368Val
NM_001927.4:c.1103C>T MANE Select	NP_001918.3:p.Ala368Val
NM_001382708.1:c.1100C>T	NP_001369637.1:p.Ala367Val
NM_001382709.1:c.736-65C>T	NP_001369638.1:n.736-65C>T
NM_001382710.1:c.1034C>T	NP_001369639.1:p.Ala345Val
NM_001382711.1:c.1082C>T	NP_001369640.1:p.Ala361Val
NM_001382712.1:c.1103C>T	NP_001369641.1:p.Ala368Val
NM_001382713.1:c.833C>T	NP_001369642.1:p.Ala278Val