Canonical Allele Identifier: CA79622129

Gene: DCBLD2

Linked Data

• dbSNP Id: rs190127439
• gnomAD v3: 3-98881379-A-C
• gnomAD v4: 3-98881379-A-C
• MyVariant Identifiers: chr3:g.98600223A>C (hg19) ; chr3:g.98881379A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881379A>C , CM000665.2:g.98881379A>C	GRCh38
NC_000003.11:g.98600223A>C , CM000665.1:g.98600223A>C	GRCh37
NC_000003.10:g.100082913A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.433+161T>G MANE Select	ENSP00000321573.6:n.433+161T>G
ENST00000326840.10:c.433+161T>G	ENSP00000321573.6:n.433+161T>G
ENST00000326857.9:c.433+161T>G	ENSP00000321646.9:n.433+161T>G
ENST00000449482.1:c.115+161T>G	ENSP00000396803.1:n.115+161T>G
ENST00000469648.5:n.268+19343T>G
ENST00000486004.1:n.411+161T>G
NM_080927.3:c.433+161T>G	NP_563615.3:n.433+161T>G
XM_011512419.1:c.205+19743T>G	XP_011510721.1:n.205+19743T>G
XM_011512419.2:c.205+19743T>G	XP_011510721.1:n.205+19743T>G
XM_024453347.1:c.115+161T>G	XP_024309115.1:n.115+161T>G
XM_024453348.1:c.115+161T>G	XP_024309116.1:n.115+161T>G
NM_080927.4:c.433+161T>G MANE Select	NP_563615.3:n.433+161T>G