Canonical Allele Identifier: CA2580618001
Gene: TFAP2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2580212
ClinVar RCV Id: RCV003329198

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.50828616_50828617del , CM000668.2:g.50828616_50828617del GRCh38
NC_000006.11:g.50796329_50796330del , CM000668.1:g.50796329_50796330del GRCh37
NC_000006.10:g.50904288_50904289del NCBI36
NG_008438.1:g.14891_14892del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393655.4:c.541-3_541-2del MANE Select ENSP00000377265.2:n.541-3_541-2del
ENST00000344788.7:c.535-3_535-2del ENSP00000342252.3:n.535-3_535-2del
ENST00000393655.3:c.541-3_541-2del ENSP00000377265.2:n.541-3_541-2del
NM_003221.3:c.541-3_541-2del NP_003212.2:n.541-3_541-2del
XM_006715176.2:c.541-3_541-2del XP_006715239.1:n.541-3_541-2del
XM_006715177.2:c.487-3_487-2del XP_006715240.1:n.487-3_487-2del
XM_011514834.1:c.568-3_568-2del XP_011513136.1:n.568-3_568-2del
XM_011514835.1:c.568-3_568-2del XP_011513137.1:n.568-3_568-2del
XM_011514836.1:c.568-3_568-2del XP_011513138.1:n.568-3_568-2del
XM_011514837.1:c.568-3_568-2del XP_011513139.1:n.568-3_568-2del
XM_011514837.2:c.568-3_568-2del XP_011513139.1:n.568-3_568-2del
XM_017011233.1:c.706-3_706-2del XP_016866722.1:n.706-3_706-2del
XM_017011234.1:c.670-3_670-2del XP_016866723.1:n.670-3_670-2del
XM_017011235.2:c.82-3_82-2del XP_016866724.1:n.82-3_82-2del
NM_003221.4:c.541-3_541-2del MANE Select NP_003212.2:n.541-3_541-2del