Canonical Allele Identifier: CA2679069787
Gene: TFAP2B HGNC NCBI

Linked Data

gnomAD v4: 6-50819013-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.50819013T>G , CM000668.2:g.50819013T>G GRCh38
NC_000006.11:g.50786726T>G , CM000668.1:g.50786726T>G GRCh37
NC_000006.10:g.50894685T>G NCBI36
NG_008438.1:g.5288T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393655.4:c.81+41T>G MANE Select ENSP00000377265.2:n.81+41T>G
ENST00000344788.7:c.48+41T>G ENSP00000342252.3:n.48+41T>G
ENST00000393655.3:c.81+41T>G ENSP00000377265.2:n.81+41T>G
NM_003221.3:c.81+41T>G NP_003212.2:n.81+41T>G
XM_006715176.2:c.81+41T>G XP_006715239.1:n.81+41T>G
XM_011514834.1:c.81+41T>G XP_011513136.1:n.81+41T>G
XM_011514835.1:c.81+41T>G XP_011513137.1:n.81+41T>G
XM_011514836.1:c.81+41T>G XP_011513138.1:n.81+41T>G
XM_011514837.1:c.81+41T>G XP_011513139.1:n.81+41T>G
XM_011514837.2:c.81+41T>G XP_011513139.1:n.81+41T>G
XM_017011233.1:c.173+41T>G XP_016866722.1:n.173+41T>G
XM_017011234.1:c.137+41T>G XP_016866723.1:n.137+41T>G
XM_017011235.2:c.81+41T>G XP_016866724.1:n.81+41T>G
NM_003221.4:c.81+41T>G MANE Select NP_003212.2:n.81+41T>G