Canonical Allele Identifier: CA362701927

Gene: TFAP2A TFAP2A-AS2

Linked Data

• dbSNP Id: rs764532449
• gnomAD v2: 6-10404960-A-C
• gnomAD v4: 6-10404727-A-C
• MyVariant Identifiers: chr6:g.10404960A>C (hg19) ; chr6:g.10404727A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404727A>C , CM000668.2:g.10404727A>C	GRCh38
NC_000006.11:g.10404960A>C , CM000668.1:g.10404960A>C	GRCh37
NC_000006.10:g.10512946A>C	NCBI36
NG_016151.1:g.19838T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.527T>G (TFAP2A)	ENSP00000368928.3:p.Leu176Arg
ENST00000379613.10:c.551T>G (TFAP2A) MANE Select	ENSP00000368933.5:p.Leu184Arg
ENST00000482890.6:c.551T>G (TFAP2A)	ENSP00000418541.2:p.Leu184Arg
ENST00000488193.7:c.*42T>G (TFAP2A)	ENSP00000419823.3:n.*42T>G
ENST00000498450.3:c.116T>G (TFAP2A)	ENSP00000419961.3:p.Leu39Arg
ENST00000319516.8:c.533T>G (TFAP2A)	ENSP00000316516.4:p.Leu178Arg
ENST00000379608.7:c.527T>G (TFAP2A)	ENSP00000368928.3:p.Leu176Arg
ENST00000379613.7:c.551T>G (TFAP2A)	ENSP00000368933.3:p.Leu184Arg
ENST00000466073.5:c.545T>G (TFAP2A)	ENSP00000417495.1:p.Leu182Arg
ENST00000473652.1:n.599T>G (TFAP2A)
ENST00000475264.5:c.259T>G (TFAP2A)
ENST00000478375.5:n.545T>G (TFAP2A)
ENST00000482890.5:c.545T>G (TFAP2A)	ENSP00000418541.1:p.Leu182Arg
ENST00000488193.5:c.*42T>G (TFAP2A)	ENSP00000419823.1:n.*42T>G
ENST00000489805.5:c.*42T>G (TFAP2A)	ENSP00000420568.1:n.*42T>G
ENST00000490875.5:n.787T>G (TFAP2A)
ENST00000497266.5:n.516T>G (TFAP2A)
ENST00000498450.1:c.116T>G (TFAP2A)	ENSP00000419961.1:p.Leu39Arg
NM_001032280.2:c.527T>G (TFAP2A)	NP_001027451.1:p.Leu176Arg
NM_001042425.1:c.533T>G (TFAP2A)	NP_001035890.1:p.Leu178Arg
NM_003220.2:c.545T>G (TFAP2A)	NP_003211.1:p.Leu182Arg
XM_006715175.2:c.680T>G (TFAP2A)	XP_006715238.1:p.Leu227Arg
XM_011514833.1:c.395T>G (TFAP2A)	XP_011513135.1:p.Leu132Arg
NR_145448.1:n.226A>C (TFAP2A-AS2)
XM_011514833.2:c.395T>G (TFAP2A)	XP_011513135.1:p.Leu132Arg
XM_017011232.1:c.791T>G (TFAP2A)	XP_016866721.1:p.Leu264Arg
NM_003220.3:c.545T>G (TFAP2A)	NP_003211.1:p.Leu182Arg
NM_001032280.3:c.527T>G (TFAP2A)	NP_001027451.1:p.Leu176Arg
NM_001042425.2:c.533T>G (TFAP2A)	NP_001035890.1:p.Leu178Arg
NM_001372066.1:c.551T>G (TFAP2A) MANE Select	NP_001358995.1:p.Leu184Arg
NM_001042425.3:c.533T>G (TFAP2A)	NP_001035890.1:p.Leu178Arg