Canonical Allele Identifier: CA825562048

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1322819434
• gnomAD v3: 6-50828602-T-C
• gnomAD v4: 6-50828602-T-C
• MyVariant Identifiers: chr6:g.50796315T>C (hg19) ; chr6:g.50828602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50828602T>C , CM000668.2:g.50828602T>C	GRCh38
NC_000006.11:g.50796315T>C , CM000668.1:g.50796315T>C	GRCh37
NC_000006.10:g.50904274T>C	NCBI36
NG_008438.1:g.14877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.541-17T>C MANE Select	ENSP00000377265.2:n.541-17T>C
ENST00000344788.7:c.535-17T>C	ENSP00000342252.3:n.535-17T>C
ENST00000393655.3:c.541-17T>C	ENSP00000377265.2:n.541-17T>C
NM_003221.3:c.541-17T>C	NP_003212.2:n.541-17T>C
XM_006715176.2:c.541-17T>C	XP_006715239.1:n.541-17T>C
XM_006715177.2:c.487-17T>C	XP_006715240.1:n.487-17T>C
XM_011514834.1:c.568-17T>C	XP_011513136.1:n.568-17T>C
XM_011514835.1:c.568-17T>C	XP_011513137.1:n.568-17T>C
XM_011514836.1:c.568-17T>C	XP_011513138.1:n.568-17T>C
XM_011514837.1:c.568-17T>C	XP_011513139.1:n.568-17T>C
XM_011514837.2:c.568-17T>C	XP_011513139.1:n.568-17T>C
XM_017011233.1:c.706-17T>C	XP_016866722.1:n.706-17T>C
XM_017011234.1:c.670-17T>C	XP_016866723.1:n.670-17T>C
XM_017011235.2:c.82-17T>C	XP_016866724.1:n.82-17T>C
NM_003221.4:c.541-17T>C MANE Select	NP_003212.2:n.541-17T>C