Canonical Allele Identifier: CA353626722
Gene: DCBLD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98881566C>T , CM000665.2:g.98881566C>T GRCh38
NC_000003.11:g.98600410C>T , CM000665.1:g.98600410C>T GRCh37
NC_000003.10:g.100083100C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326840.11:c.407G>A MANE Select ENSP00000321573.6:p.Gly136Glu
ENST00000326840.10:c.407G>A ENSP00000321573.6:p.Gly136Glu
ENST00000326857.9:c.407G>A ENSP00000321646.9:p.Gly136Glu
ENST00000449482.1:c.89G>A ENSP00000396803.1:p.Gly30Glu
ENST00000469648.5:n.268+19156G>A
ENST00000486004.1:n.385G>A
NM_080927.3:c.407G>A NP_563615.3:p.Gly136Glu
XM_011512419.1:c.205+19556G>A XP_011510721.1:n.205+19556G>A
XM_011512419.2:c.205+19556G>A XP_011510721.1:n.205+19556G>A
XM_024453347.1:c.89G>A XP_024309115.1:p.Gly30Glu
XM_024453348.1:c.89G>A XP_024309116.1:p.Gly30Glu
NM_080927.4:c.407G>A MANE Select NP_563615.3:p.Gly136Glu