Canonical Allele Identifier: CA1051357343
Gene: DCBLD2 HGNC NCBI

Linked Data

dbSNP Id: rs1943467298
gnomAD v3: 3-98881351-G-C
gnomAD v4: 3-98881351-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98881351G>C , CM000665.2:g.98881351G>C GRCh38
NC_000003.11:g.98600195G>C , CM000665.1:g.98600195G>C GRCh37
NC_000003.10:g.100082885G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326840.11:c.433+189C>G MANE Select ENSP00000321573.6:n.433+189C>G
ENST00000326840.10:c.433+189C>G ENSP00000321573.6:n.433+189C>G
ENST00000326857.9:c.433+189C>G ENSP00000321646.9:n.433+189C>G
ENST00000449482.1:c.115+189C>G ENSP00000396803.1:n.115+189C>G
ENST00000469648.5:n.268+19371C>G
ENST00000486004.1:n.411+189C>G
NM_080927.3:c.433+189C>G NP_563615.3:n.433+189C>G
XM_011512419.1:c.205+19771C>G XP_011510721.1:n.205+19771C>G
XM_011512419.2:c.205+19771C>G XP_011510721.1:n.205+19771C>G
XM_024453347.1:c.115+189C>G XP_024309115.1:n.115+189C>G
XM_024453348.1:c.115+189C>G XP_024309116.1:n.115+189C>G
NM_080927.4:c.433+189C>G MANE Select NP_563615.3:n.433+189C>G
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