Canonical Allele Identifier: CA134049276

Gene: TFAP2A TFAP2A-AS2

Linked Data

• dbSNP Id: rs1041684112
• gnomAD v2: 6-10404959-C-T
• gnomAD v4: 6-10404726-C-T
• MyVariant Identifiers: chr6:g.10404959C>T (hg19) ; chr6:g.10404726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404726C>T , CM000668.2:g.10404726C>T	GRCh38
NC_000006.11:g.10404959C>T , CM000668.1:g.10404959C>T	GRCh37
NC_000006.10:g.10512945C>T	NCBI36
NG_016151.1:g.19839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.528G>A (TFAP2A)	ENSP00000368928.3:p.Leu176=
ENST00000379613.10:c.552G>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Leu184=
ENST00000482890.6:c.552G>A (TFAP2A)	ENSP00000418541.2:p.Leu184=
ENST00000488193.7:c.*43G>A (TFAP2A)	ENSP00000419823.3:n.*43G>A
ENST00000498450.3:c.117G>A (TFAP2A)	ENSP00000419961.3:p.Leu39=
ENST00000319516.8:c.534G>A (TFAP2A)	ENSP00000316516.4:p.Leu178=
ENST00000379608.7:c.528G>A (TFAP2A)	ENSP00000368928.3:p.Leu176=
ENST00000379613.7:c.552G>A (TFAP2A)	ENSP00000368933.3:p.Leu184=
ENST00000466073.5:c.546G>A (TFAP2A)	ENSP00000417495.1:p.Leu182=
ENST00000473652.1:n.600G>A (TFAP2A)
ENST00000475264.5:c.260G>A (TFAP2A)
ENST00000478375.5:n.546G>A (TFAP2A)
ENST00000482890.5:c.546G>A (TFAP2A)	ENSP00000418541.1:p.Leu182=
ENST00000488193.5:c.*43G>A (TFAP2A)	ENSP00000419823.1:n.*43G>A
ENST00000489805.5:c.*43G>A (TFAP2A)	ENSP00000420568.1:n.*43G>A
ENST00000490875.5:n.788G>A (TFAP2A)
ENST00000497266.5:n.517G>A (TFAP2A)
ENST00000498450.1:c.117G>A (TFAP2A)	ENSP00000419961.1:p.Leu39=
NM_001032280.2:c.528G>A (TFAP2A)	NP_001027451.1:p.Leu176=
NM_001042425.1:c.534G>A (TFAP2A)	NP_001035890.1:p.Leu178=
NM_003220.2:c.546G>A (TFAP2A)	NP_003211.1:p.Leu182=
XM_006715175.2:c.681G>A (TFAP2A)	XP_006715238.1:p.Leu227=
XM_011514833.1:c.396G>A (TFAP2A)	XP_011513135.1:p.Leu132=
NR_145448.1:n.225C>T (TFAP2A-AS2)
XM_011514833.2:c.396G>A (TFAP2A)	XP_011513135.1:p.Leu132=
XM_017011232.1:c.792G>A (TFAP2A)	XP_016866721.1:p.Leu264=
NM_003220.3:c.546G>A (TFAP2A)	NP_003211.1:p.Leu182=
NM_001032280.3:c.528G>A (TFAP2A)	NP_001027451.1:p.Leu176=
NM_001042425.2:c.534G>A (TFAP2A)	NP_001035890.1:p.Leu178=
NM_001372066.1:c.552G>A (TFAP2A) MANE Select	NP_001358995.1:p.Leu184=
NM_001042425.3:c.534G>A (TFAP2A)	NP_001035890.1:p.Leu178=