Canonical Allele Identifier: CA567280551

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1212418867
• gnomAD v2: 6-50798458-G-C
• gnomAD v3: 6-50830745-G-C
• gnomAD v4: 6-50830745-G-C
• MyVariant Identifiers: chr6:g.50798458G>C (hg19) ; chr6:g.50830745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50830745G>C , CM000668.2:g.50830745G>C	GRCh38
NC_000006.11:g.50798458G>C , CM000668.1:g.50798458G>C	GRCh37
NC_000006.10:g.50906417G>C	NCBI36
NG_008438.1:g.17020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.601+2066G>C MANE Select	ENSP00000377265.2:n.601+2066G>C
ENST00000393655.3:c.601+2066G>C	ENSP00000377265.2:n.601+2066G>C
NM_003221.3:c.601+2066G>C	NP_003212.2:n.601+2066G>C
XM_006715176.2:c.601+2066G>C	XP_006715239.1:n.601+2066G>C
XM_006715177.2:c.547+2066G>C	XP_006715240.1:n.547+2066G>C
XM_011514834.1:c.628+2066G>C	XP_011513136.1:n.628+2066G>C
XM_011514835.1:c.628+2066G>C	XP_011513137.1:n.628+2066G>C
XM_011514836.1:c.628+2066G>C	XP_011513138.1:n.628+2066G>C
XM_011514837.1:c.628+2066G>C	XP_011513139.1:n.628+2066G>C
XM_011514837.2:c.628+2066G>C	XP_011513139.1:n.628+2066G>C
XM_017011233.1:c.766+2066G>C	XP_016866722.1:n.766+2066G>C
XM_017011234.1:c.730+2066G>C	XP_016866723.1:n.730+2066G>C
XM_017011235.2:c.142+2066G>C	XP_016866724.1:n.142+2066G>C
NM_003221.4:c.601+2066G>C MANE Select	NP_003212.2:n.601+2066G>C