Canonical Allele Identifier: CA2516819087
Gene: TFAP2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.50830724T>C , CM000668.2:g.50830724T>C GRCh38
NC_000006.11:g.50798437T>C , CM000668.1:g.50798437T>C GRCh37
NC_000006.10:g.50906396T>C NCBI36
NG_008438.1:g.16999T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393655.4:c.601+2045T>C MANE Select ENSP00000377265.2:n.601+2045T>C
ENST00000393655.3:c.601+2045T>C ENSP00000377265.2:n.601+2045T>C
NM_003221.3:c.601+2045T>C NP_003212.2:n.601+2045T>C
XM_006715176.2:c.601+2045T>C XP_006715239.1:n.601+2045T>C
XM_006715177.2:c.547+2045T>C XP_006715240.1:n.547+2045T>C
XM_011514834.1:c.628+2045T>C XP_011513136.1:n.628+2045T>C
XM_011514835.1:c.628+2045T>C XP_011513137.1:n.628+2045T>C
XM_011514836.1:c.628+2045T>C XP_011513138.1:n.628+2045T>C
XM_011514837.1:c.628+2045T>C XP_011513139.1:n.628+2045T>C
XM_011514837.2:c.628+2045T>C XP_011513139.1:n.628+2045T>C
XM_017011233.1:c.766+2045T>C XP_016866722.1:n.766+2045T>C
XM_017011234.1:c.730+2045T>C XP_016866723.1:n.730+2045T>C
XM_017011235.2:c.142+2045T>C XP_016866724.1:n.142+2045T>C
NM_003221.4:c.601+2045T>C MANE Select NP_003212.2:n.601+2045T>C