Canonical Allele Identifier: CA2125097

Gene: DES

Linked Data

• dbSNP Id: rs748846624
• ExAC: 2:220284886 C / T
• gnomAD v2: 2-220284886-C-T
• gnomAD v4: 2-219420164-C-T
• MyVariant Identifiers: chr2:g.220284886C>T (hg19) ; chr2:g.220284886_220284889delinsTCTT (hg19) ; chr2:g.219420164C>T (hg38) ; chr2:g.219420164_219420167delinsTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420164C>T , CM000664.2:g.219420164C>T	GRCh38
NC_000002.11:g.220284886C>T , CM000664.1:g.220284886C>T	GRCh37
NC_000002.10:g.219993130C>T	NCBI36
NG_008043.1:g.6788C>T , LRG_380:g.6788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.113+9C>T
ENST00000373960.4:c.639+9C>T MANE Select	ENSP00000363071.3:n.639+9C>T
ENST00000373960.3:c.639+9C>T	ENSP00000363071.3:n.639+9C>T
ENST00000477226.5:n.111+9C>T
ENST00000492726.1:n.34+9C>T
NM_001927.3:c.639+9C>T , LRG_380t1:c.639+9C>T	NP_001918.3:n.639+9C>T
NM_001927.4:c.639+9C>T MANE Select	NP_001918.3:n.639+9C>T
NM_001382708.1:c.636+12C>T	NP_001369637.1:n.636+12C>T
NM_001382709.1:c.639+9C>T	NP_001369638.1:n.639+9C>T
NM_001382710.1:c.639+9C>T	NP_001369639.1:n.639+9C>T
NM_001382711.1:c.639+9C>T	NP_001369640.1:n.639+9C>T
NM_001382712.1:c.639+9C>T	NP_001369641.1:n.639+9C>T
NM_001382713.1:c.496-361C>T	NP_001369642.1:n.496-361C>T