Canonical Allele Identifier: CA353626700

Gene: DCBLD2

Linked Data

• MyVariant Identifiers: chr3:g.98600399T>A (hg19) ; chr3:g.98881555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881555T>A , CM000665.2:g.98881555T>A	GRCh38
NC_000003.11:g.98600399T>A , CM000665.1:g.98600399T>A	GRCh37
NC_000003.10:g.100083089T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.418A>T MANE Select	ENSP00000321573.6:p.Ser140Cys
ENST00000326840.10:c.418A>T	ENSP00000321573.6:p.Ser140Cys
ENST00000326857.9:c.418A>T	ENSP00000321646.9:p.Ser140Cys
ENST00000449482.1:c.100A>T	ENSP00000396803.1:p.Ser34Cys
ENST00000469648.5:n.268+19167A>T
ENST00000486004.1:n.396A>T
NM_080927.3:c.418A>T	NP_563615.3:p.Ser140Cys
XM_011512419.1:c.205+19567A>T	XP_011510721.1:n.205+19567A>T
XM_011512419.2:c.205+19567A>T	XP_011510721.1:n.205+19567A>T
XM_024453347.1:c.100A>T	XP_024309115.1:p.Ser34Cys
XM_024453348.1:c.100A>T	XP_024309116.1:p.Ser34Cys
NM_080927.4:c.418A>T MANE Select	NP_563615.3:p.Ser140Cys