Canonical Allele Identifier: CA353626703

Gene: DCBLD2

Linked Data

• MyVariant Identifiers: chr3:g.98600401A>T (hg19) ; chr3:g.98881557A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881557A>T , CM000665.2:g.98881557A>T	GRCh38
NC_000003.11:g.98600401A>T , CM000665.1:g.98600401A>T	GRCh37
NC_000003.10:g.100083091A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326840.11:c.416T>A MANE Select	ENSP00000321573.6:p.Val139Asp
ENST00000326840.10:c.416T>A	ENSP00000321573.6:p.Val139Asp
ENST00000326857.9:c.416T>A	ENSP00000321646.9:p.Val139Asp
ENST00000449482.1:c.98T>A	ENSP00000396803.1:p.Val33Asp
ENST00000469648.5:n.268+19165T>A
ENST00000486004.1:n.394T>A
NM_080927.3:c.416T>A	NP_563615.3:p.Val139Asp
XM_011512419.1:c.205+19565T>A	XP_011510721.1:n.205+19565T>A
XM_011512419.2:c.205+19565T>A	XP_011510721.1:n.205+19565T>A
XM_024453347.1:c.98T>A	XP_024309115.1:p.Val33Asp
XM_024453348.1:c.98T>A	XP_024309116.1:p.Val33Asp
NM_080927.4:c.416T>A MANE Select	NP_563615.3:p.Val139Asp