Canonical Allele Identifier: CA138859472

Gene: TFAP2B

Linked Data

• ClinVar Variation Id: 3176444
• ClinVar RCV Id: RCV004472320
• dbSNP Id: rs148262187
• gnomAD v2: 6-50786679-C-G
• gnomAD v3: 6-50818966-C-G
• gnomAD v4: 6-50818966-C-G
• MyVariant Identifiers: chr6:g.50786679C>G (hg19) ; chr6:g.50818966C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818966C>G , CM000668.2:g.50818966C>G	GRCh38
NC_000006.11:g.50786679C>G , CM000668.1:g.50786679C>G	GRCh37
NC_000006.10:g.50894638C>G	NCBI36
NG_008438.1:g.5241C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.75C>G MANE Select	ENSP00000377265.2:p.Ile25Met
ENST00000344788.7:c.42C>G	ENSP00000342252.3:p.Ile14Met
ENST00000393655.3:c.75C>G	ENSP00000377265.2:p.Ile25Met
NM_003221.3:c.75C>G	NP_003212.2:p.Ile25Met
XM_006715176.2:c.75C>G	XP_006715239.1:p.Ile25Met
XM_011514834.1:c.75C>G	XP_011513136.1:p.Ile25Met
XM_011514835.1:c.75C>G	XP_011513137.1:p.Ile25Met
XM_011514836.1:c.75C>G	XP_011513138.1:p.Ile25Met
XM_011514837.1:c.75C>G	XP_011513139.1:p.Ile25Met
XM_011514837.2:c.75C>G	XP_011513139.1:p.Ile25Met
XM_017011233.1:c.167C>G	XP_016866722.1:p.Ser56Cys
XM_017011234.1:c.131C>G	XP_016866723.1:p.Ser44Cys
XM_017011235.2:c.75C>G	XP_016866724.1:p.Ile25Met
NM_003221.4:c.75C>G MANE Select	NP_003212.2:p.Ile25Met