Canonical Allele Identifier: CA353626682

Gene: DCBLD2

Linked Data

• MyVariant Identifiers: chr3:g.98600392G>T (hg19) ; chr3:g.98881548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881548G>T , CM000665.2:g.98881548G>T	GRCh38
NC_000003.11:g.98600392G>T , CM000665.1:g.98600392G>T	GRCh37
NC_000003.10:g.100083082G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.425C>A MANE Select	ENSP00000321573.6:p.Thr142Asn
ENST00000326840.10:c.425C>A	ENSP00000321573.6:p.Thr142Asn
ENST00000326857.9:c.425C>A	ENSP00000321646.9:p.Thr142Asn
ENST00000449482.1:c.107C>A	ENSP00000396803.1:p.Thr36Asn
ENST00000469648.5:n.268+19174C>A
ENST00000486004.1:n.403C>A
NM_080927.3:c.425C>A	NP_563615.3:p.Thr142Asn
XM_011512419.1:c.205+19574C>A	XP_011510721.1:n.205+19574C>A
XM_011512419.2:c.205+19574C>A	XP_011510721.1:n.205+19574C>A
XM_024453347.1:c.107C>A	XP_024309115.1:p.Thr36Asn
XM_024453348.1:c.107C>A	XP_024309116.1:p.Thr36Asn
NM_080927.4:c.425C>A MANE Select	NP_563615.3:p.Thr142Asn