Canonical Allele Identifier: CA1051357399

Gene: DCBLD2

Linked Data

• dbSNP Id: rs1943468651
• gnomAD v3: 3-98881450-C-T
• gnomAD v4: 3-98881450-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881450C>T , CM000665.2:g.98881450C>T	GRCh38
NC_000003.11:g.98600294C>T , CM000665.1:g.98600294C>T	GRCh37
NC_000003.10:g.100082984C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.433+90G>A MANE Select	ENSP00000321573.6:n.433+90G>A
ENST00000326840.10:c.433+90G>A	ENSP00000321573.6:n.433+90G>A
ENST00000326857.9:c.433+90G>A	ENSP00000321646.9:n.433+90G>A
ENST00000449482.1:c.115+90G>A	ENSP00000396803.1:n.115+90G>A
ENST00000469648.5:n.268+19272G>A
ENST00000486004.1:n.411+90G>A
NM_080927.3:c.433+90G>A	NP_563615.3:n.433+90G>A
XM_011512419.1:c.205+19672G>A	XP_011510721.1:n.205+19672G>A
XM_011512419.2:c.205+19672G>A	XP_011510721.1:n.205+19672G>A
XM_024453347.1:c.115+90G>A	XP_024309115.1:n.115+90G>A
XM_024453348.1:c.115+90G>A	XP_024309116.1:n.115+90G>A
NM_080927.4:c.433+90G>A MANE Select	NP_563615.3:n.433+90G>A