Canonical Allele Identifier: CA1051357361

Gene: DCBLD2

Linked Data

• dbSNP Id: rs1943467722
• gnomAD v3: 3-98881381-C-G
• gnomAD v4: 3-98881381-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881381C>G , CM000665.2:g.98881381C>G	GRCh38
NC_000003.11:g.98600225C>G , CM000665.1:g.98600225C>G	GRCh37
NC_000003.10:g.100082915C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.433+159G>C MANE Select	ENSP00000321573.6:n.433+159G>C
ENST00000326840.10:c.433+159G>C	ENSP00000321573.6:n.433+159G>C
ENST00000326857.9:c.433+159G>C	ENSP00000321646.9:n.433+159G>C
ENST00000449482.1:c.115+159G>C	ENSP00000396803.1:n.115+159G>C
ENST00000469648.5:n.268+19341G>C
ENST00000486004.1:n.411+159G>C
NM_080927.3:c.433+159G>C	NP_563615.3:n.433+159G>C
XM_011512419.1:c.205+19741G>C	XP_011510721.1:n.205+19741G>C
XM_011512419.2:c.205+19741G>C	XP_011510721.1:n.205+19741G>C
XM_024453347.1:c.115+159G>C	XP_024309115.1:n.115+159G>C
XM_024453348.1:c.115+159G>C	XP_024309116.1:n.115+159G>C
NM_080927.4:c.433+159G>C MANE Select	NP_563615.3:n.433+159G>C