Canonical Allele Identifier: CA1628080066

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1770652729
• gnomAD v3: 6-50830845-G-C
• gnomAD v4: 6-50830845-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50830845G>C , CM000668.2:g.50830845G>C	GRCh38
NC_000006.11:g.50798558G>C , CM000668.1:g.50798558G>C	GRCh37
NC_000006.10:g.50906517G>C	NCBI36
NG_008438.1:g.17120G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393655.4:c.601+2166G>C MANE Select	ENSP00000377265.2:n.601+2166G>C
ENST00000393655.3:c.601+2166G>C	ENSP00000377265.2:n.601+2166G>C
NM_003221.3:c.601+2166G>C	NP_003212.2:n.601+2166G>C
XM_006715176.2:c.601+2166G>C	XP_006715239.1:n.601+2166G>C
XM_006715177.2:c.547+2166G>C	XP_006715240.1:n.547+2166G>C
XM_011514834.1:c.628+2166G>C	XP_011513136.1:n.628+2166G>C
XM_011514835.1:c.628+2166G>C	XP_011513137.1:n.628+2166G>C
XM_011514836.1:c.628+2166G>C	XP_011513138.1:n.628+2166G>C
XM_011514837.1:c.628+2166G>C	XP_011513139.1:n.628+2166G>C
XM_011514837.2:c.628+2166G>C	XP_011513139.1:n.628+2166G>C
XM_017011233.1:c.766+2166G>C	XP_016866722.1:n.766+2166G>C
XM_017011234.1:c.730+2166G>C	XP_016866723.1:n.730+2166G>C
XM_017011235.2:c.142+2166G>C	XP_016866724.1:n.142+2166G>C
NM_003221.4:c.601+2166G>C MANE Select	NP_003212.2:n.601+2166G>C