Canonical Allele Identifier: CA364410155

Gene: TFAP2B

Linked Data

• ClinVar Variation Id: 3065996
• ClinVar RCV Id: RCV003989451
• MyVariant Identifiers: chr6:g.50786670C>G (hg19) ; chr6:g.50818957C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818957C>G , CM000668.2:g.50818957C>G	GRCh38
NC_000006.11:g.50786670C>G , CM000668.1:g.50786670C>G	GRCh37
NC_000006.10:g.50894629C>G	NCBI36
NG_008438.1:g.5232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.66C>G MANE Select	ENSP00000377265.2:p.Tyr22Ter
ENST00000344788.7:c.33C>G	ENSP00000342252.3:p.Tyr11Ter
ENST00000393655.3:c.66C>G	ENSP00000377265.2:p.Tyr22Ter
NM_003221.3:c.66C>G	NP_003212.2:p.Tyr22Ter
XM_006715176.2:c.66C>G	XP_006715239.1:p.Tyr22Ter
XM_011514834.1:c.66C>G	XP_011513136.1:p.Tyr22Ter
XM_011514835.1:c.66C>G	XP_011513137.1:p.Tyr22Ter
XM_011514836.1:c.66C>G	XP_011513138.1:p.Tyr22Ter
XM_011514837.1:c.66C>G	XP_011513139.1:p.Tyr22Ter
XM_011514837.2:c.66C>G	XP_011513139.1:p.Tyr22Ter
XM_017011233.1:c.158C>G	XP_016866722.1:p.Thr53Arg
XM_017011234.1:c.122C>G	XP_016866723.1:p.Thr41Arg
XM_017011235.2:c.66C>G	XP_016866724.1:p.Tyr22Ter
NM_003221.4:c.66C>G MANE Select	NP_003212.2:p.Tyr22Ter