Canonical Allele Identifier: CA450411628

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1377078499
• gnomAD v2: 6-50786670-C-T
• gnomAD v4: 6-50818957-C-T
• MyVariant Identifiers: chr6:g.50786670C>T (hg19) ; chr6:g.50818957C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.66C>T MANE Select	ENSP00000377265.2:p.Tyr22=
ENST00000344788.7:c.33C>T	ENSP00000342252.3:p.Tyr11=
ENST00000393655.3:c.66C>T	ENSP00000377265.2:p.Tyr22=
NM_003221.3:c.66C>T	NP_003212.2:p.Tyr22=
XM_006715176.2:c.66C>T	XP_006715239.1:p.Tyr22=
XM_011514834.1:c.66C>T	XP_011513136.1:p.Tyr22=
XM_011514835.1:c.66C>T	XP_011513137.1:p.Tyr22=
XM_011514836.1:c.66C>T	XP_011513138.1:p.Tyr22=
XM_011514837.1:c.66C>T	XP_011513139.1:p.Tyr22=
XM_011514837.2:c.66C>T	XP_011513139.1:p.Tyr22=
XM_017011233.1:c.158C>T	XP_016866722.1:p.Thr53Met
XM_017011234.1:c.122C>T	XP_016866723.1:p.Thr41Met
XM_017011235.2:c.66C>T	XP_016866724.1:p.Tyr22=
NM_003221.4:c.66C>T MANE Select	NP_003212.2:p.Tyr22=