Canonical Allele Identifier: CA2666720427
Gene: DCBLD2 HGNC NCBI

Linked Data

gnomAD v4: 3-98881467-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98881467A>G , CM000665.2:g.98881467A>G GRCh38
NC_000003.11:g.98600311A>G , CM000665.1:g.98600311A>G GRCh37
NC_000003.10:g.100083001A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326840.11:c.433+73T>C MANE Select ENSP00000321573.6:n.433+73T>C
ENST00000326840.10:c.433+73T>C ENSP00000321573.6:n.433+73T>C
ENST00000326857.9:c.433+73T>C ENSP00000321646.9:n.433+73T>C
ENST00000449482.1:c.115+73T>C ENSP00000396803.1:n.115+73T>C
ENST00000469648.5:n.268+19255T>C
ENST00000486004.1:n.411+73T>C
NM_080927.3:c.433+73T>C NP_563615.3:n.433+73T>C
XM_011512419.1:c.205+19655T>C XP_011510721.1:n.205+19655T>C
XM_011512419.2:c.205+19655T>C XP_011510721.1:n.205+19655T>C
XM_024453347.1:c.115+73T>C XP_024309115.1:n.115+73T>C
XM_024453348.1:c.115+73T>C XP_024309116.1:n.115+73T>C
NM_080927.4:c.433+73T>C MANE Select NP_563615.3:n.433+73T>C