Canonical Allele Identifier: CA3850536

Gene: TFAP2B

Linked Data

• ClinVar Variation Id: 357283
• ClinVar RCV Id: RCV000886826
• dbSNP Id: rs112599056
• ExAC: 6:50810881 C / T
• gnomAD v2: 6-50810881-C-T
• gnomAD v3: 6-50843168-C-T
• gnomAD v4: 6-50843168-C-T
• MyVariant Identifiers: chr6:g.50810881C>T (hg19) ; chr6:g.50843168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50843168C>T , CM000668.2:g.50843168C>T	GRCh38
NC_000006.11:g.50810881C>T , CM000668.1:g.50810881C>T	GRCh37
NC_000006.10:g.50918840C>T	NCBI36
NG_008438.1:g.29443C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393655.4:c.1159C>T MANE Select	ENSP00000377265.2:p.Leu387=
ENST00000393655.3:c.1159C>T	ENSP00000377265.2:p.Leu387=
NM_003221.3:c.1159C>T	NP_003212.2:p.Leu387=
XM_006715176.2:c.1159C>T	XP_006715239.1:p.Leu387=
XM_006715177.2:c.1105C>T	XP_006715240.1:p.Leu369=
XM_011514834.1:c.1186C>T	XP_011513136.1:p.Leu396=
XM_011514835.1:c.1186C>T	XP_011513137.1:p.Leu396=
XM_011514836.1:c.1186C>T	XP_011513138.1:p.Leu396=
XM_011514837.1:c.1186C>T	XP_011513139.1:p.Leu396=
XM_011514837.2:c.1186C>T	XP_011513139.1:p.Leu396=
XM_017011233.1:c.1324C>T	XP_016866722.1:p.Leu442=
XM_017011234.1:c.1288C>T	XP_016866723.1:p.Leu430=
XM_017011235.2:c.700C>T	XP_016866724.1:p.Leu234=
NM_003221.4:c.1159C>T MANE Select	NP_003212.2:p.Leu387=