Canonical Allele Identifier: CA2679069773
Gene: TFAP2B HGNC NCBI

Linked Data

gnomAD v4: 6-50818869-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.50818869C>G , CM000668.2:g.50818869C>G GRCh38
NC_000006.11:g.50786582C>G , CM000668.1:g.50786582C>G GRCh37
NC_000006.10:g.50894541C>G NCBI36
NG_008438.1:g.5144C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344788.7:c.-56C>G ENSP00000342252.3:n.-56C>G
ENST00000393655.3:c.-23C>G ENSP00000377265.2:n.-23C>G
NM_003221.3:c.-23C>G NP_003212.2:n.-23C>G
XM_006715176.2:c.-23C>G XP_006715239.1:n.-23C>G
XM_011514834.1:c.-23C>G XP_011513136.1:n.-23C>G
XM_011514835.1:c.-23C>G XP_011513137.1:n.-23C>G
XM_011514836.1:c.-23C>G XP_011513138.1:n.-23C>G
XM_011514837.1:c.-23C>G XP_011513139.1:n.-23C>G
XM_011514837.2:c.-23C>G XP_011513139.1:n.-23C>G
XM_017011233.1:c.70C>G XP_016866722.1:p.Pro24Ala
XM_017011234.1:c.34C>G XP_016866723.1:p.Pro12Ala
XM_017011235.2:c.-23C>G XP_016866724.1:n.-23C>G