Canonical Allele Identifier: CA2597064953

Gene: TFAP2B

Linked Data

• dbSNP Id: rs538417436
• gnomAD v3: 6-50830872-G-C
• gnomAD v4: 6-50830872-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50830872G>C , CM000668.2:g.50830872G>C	GRCh38
NC_000006.11:g.50798585G>C , CM000668.1:g.50798585G>C	GRCh37
NC_000006.10:g.50906544G>C	NCBI36
NG_008438.1:g.17147G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393655.4:c.601+2193G>C MANE Select	ENSP00000377265.2:n.601+2193G>C
ENST00000393655.3:c.601+2193G>C	ENSP00000377265.2:n.601+2193G>C
NM_003221.3:c.601+2193G>C	NP_003212.2:n.601+2193G>C
XM_006715176.2:c.601+2193G>C	XP_006715239.1:n.601+2193G>C
XM_006715177.2:c.547+2193G>C	XP_006715240.1:n.547+2193G>C
XM_011514834.1:c.628+2193G>C	XP_011513136.1:n.628+2193G>C
XM_011514835.1:c.628+2193G>C	XP_011513137.1:n.628+2193G>C
XM_011514836.1:c.628+2193G>C	XP_011513138.1:n.628+2193G>C
XM_011514837.1:c.628+2193G>C	XP_011513139.1:n.628+2193G>C
XM_011514837.2:c.628+2193G>C	XP_011513139.1:n.628+2193G>C
XM_017011233.1:c.766+2193G>C	XP_016866722.1:n.766+2193G>C
XM_017011234.1:c.730+2193G>C	XP_016866723.1:n.730+2193G>C
XM_017011235.2:c.142+2193G>C	XP_016866724.1:n.142+2193G>C
NM_003221.4:c.601+2193G>C MANE Select	NP_003212.2:n.601+2193G>C