Canonical Allele Identifier: CA567278176

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1273109502
• gnomAD v2: 6-50786956-C-T
• gnomAD v3: 6-50819243-C-T
• gnomAD v4: 6-50819243-C-T
• MyVariant Identifiers: chr6:g.50786956C>T (hg19) ; chr6:g.50819243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50819243C>T , CM000668.2:g.50819243C>T	GRCh38
NC_000006.11:g.50786956C>T , CM000668.1:g.50786956C>T	GRCh37
NC_000006.10:g.50894915C>T	NCBI36
NG_008438.1:g.5518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.81+271C>T MANE Select	ENSP00000377265.2:n.81+271C>T
ENST00000344788.7:c.48+271C>T	ENSP00000342252.3:n.48+271C>T
ENST00000393655.3:c.81+271C>T	ENSP00000377265.2:n.81+271C>T
NM_003221.3:c.81+271C>T	NP_003212.2:n.81+271C>T
XM_006715176.2:c.81+271C>T	XP_006715239.1:n.81+271C>T
XM_011514834.1:c.81+271C>T	XP_011513136.1:n.81+271C>T
XM_011514835.1:c.81+271C>T	XP_011513137.1:n.81+271C>T
XM_011514836.1:c.81+271C>T	XP_011513138.1:n.81+271C>T
XM_011514837.1:c.81+271C>T	XP_011513139.1:n.81+271C>T
XM_011514837.2:c.81+271C>T	XP_011513139.1:n.81+271C>T
XM_017011233.1:c.173+271C>T	XP_016866722.1:n.173+271C>T
XM_017011234.1:c.137+271C>T	XP_016866723.1:n.137+271C>T
XM_017011235.2:c.81+271C>T	XP_016866724.1:n.81+271C>T
NM_003221.4:c.81+271C>T MANE Select	NP_003212.2:n.81+271C>T