Canonical Allele Identifier: CA353626692
Gene: DCBLD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98881552T>A , CM000665.2:g.98881552T>A GRCh38
NC_000003.11:g.98600396T>A , CM000665.1:g.98600396T>A GRCh37
NC_000003.10:g.100083086T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326840.11:c.421A>T MANE Select ENSP00000321573.6:p.Arg141Ter
ENST00000326840.10:c.421A>T ENSP00000321573.6:p.Arg141Ter
ENST00000326857.9:c.421A>T ENSP00000321646.9:p.Arg141Ter
ENST00000449482.1:c.103A>T ENSP00000396803.1:p.Arg35Ter
ENST00000469648.5:n.268+19170A>T
ENST00000486004.1:n.399A>T
NM_080927.3:c.421A>T NP_563615.3:p.Arg141Ter
XM_011512419.1:c.205+19570A>T XP_011510721.1:n.205+19570A>T
XM_011512419.2:c.205+19570A>T XP_011510721.1:n.205+19570A>T
XM_024453347.1:c.103A>T XP_024309115.1:p.Arg35Ter
XM_024453348.1:c.103A>T XP_024309116.1:p.Arg35Ter
NM_080927.4:c.421A>T MANE Select NP_563615.3:p.Arg141Ter