Canonical Allele Identifier: CA364412960

Gene: TFAP2B

Linked Data

• gnomAD v4: 6-50823769-C-G
• MyVariant Identifiers: chr6:g.50791482C>G (hg19) ; chr6:g.50823769C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50823769C>G , CM000668.2:g.50823769C>G	GRCh38
NC_000006.11:g.50791482C>G , CM000668.1:g.50791482C>G	GRCh37
NC_000006.10:g.50899441C>G	NCBI36
NG_008438.1:g.10044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.444C>G MANE Select	ENSP00000377265.2:p.Asp148Glu
ENST00000344788.7:c.438C>G	ENSP00000342252.3:p.Asp146Glu
ENST00000393655.3:c.444C>G	ENSP00000377265.2:p.Asp148Glu
ENST00000489228.1:n.739C>G
NM_003221.3:c.444C>G	NP_003212.2:p.Asp148Glu
XM_006715176.2:c.444C>G	XP_006715239.1:p.Asp148Glu
XM_006715177.2:c.390C>G	XP_006715240.1:p.Asp130Glu
XM_011514834.1:c.471C>G	XP_011513136.1:p.Asp157Glu
XM_011514835.1:c.471C>G	XP_011513137.1:p.Asp157Glu
XM_011514836.1:c.471C>G	XP_011513138.1:p.Asp157Glu
XM_011514837.1:c.471C>G	XP_011513139.1:p.Asp157Glu
XM_011514837.2:c.471C>G	XP_011513139.1:p.Asp157Glu
XM_017011233.1:c.609C>G	XP_016866722.1:p.Asp203Glu
XM_017011234.1:c.573C>G	XP_016866723.1:p.Asp191Glu
XM_017011235.2:c.81+4797C>G	XP_016866724.1:n.81+4797C>G
NM_003221.4:c.444C>G MANE Select	NP_003212.2:p.Asp148Glu