Canonical Allele Identifier: CA362701169

Gene: TFAP2A TFAP2A-AS2

Linked Data

• ClinVar Variation Id: 807514
• ClinVar RCV Id: RCV000995666
• dbSNP Id: rs1581262652
• MyVariant Identifiers: chr6:g.10404759A>G (hg19) ; chr6:g.10404526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404526A>G , CM000668.2:g.10404526A>G	GRCh38
NC_000006.11:g.10404759A>G , CM000668.1:g.10404759A>G	GRCh37
NC_000006.10:g.10512745A>G	NCBI36
NG_016151.1:g.20039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.728T>C (TFAP2A)	ENSP00000368928.3:p.Leu243Pro
ENST00000379613.10:c.752T>C (TFAP2A) MANE Select	ENSP00000368933.5:p.Leu251Pro
ENST00000482890.6:c.752T>C (TFAP2A)	ENSP00000418541.2:p.Leu251Pro
ENST00000488193.7:c.*243T>C (TFAP2A)	ENSP00000419823.3:n.*243T>C
ENST00000498450.3:c.317T>C (TFAP2A)	ENSP00000419961.3:p.Leu106Pro
ENST00000319516.8:c.734T>C (TFAP2A)	ENSP00000316516.4:p.Leu245Pro
ENST00000379608.7:c.728T>C (TFAP2A)	ENSP00000368928.3:p.Leu243Pro
ENST00000379613.7:c.752T>C (TFAP2A)	ENSP00000368933.3:p.Leu251Pro
ENST00000461628.5:c.69T>C (TFAP2A)
ENST00000466073.5:c.746T>C (TFAP2A)	ENSP00000417495.1:p.Leu249Pro
ENST00000475264.5:c.460T>C (TFAP2A)
ENST00000478375.5:n.746T>C (TFAP2A)
ENST00000482890.5:c.746T>C (TFAP2A)	ENSP00000418541.1:p.Leu249Pro
ENST00000488193.5:c.*243T>C (TFAP2A)	ENSP00000419823.1:n.*243T>C
ENST00000489805.5:c.*243T>C (TFAP2A)	ENSP00000420568.1:n.*243T>C
ENST00000497266.5:n.717T>C (TFAP2A)
ENST00000498450.1:c.317T>C (TFAP2A)	ENSP00000419961.1:p.Leu106Pro
NM_001032280.2:c.728T>C (TFAP2A)	NP_001027451.1:p.Leu243Pro
NM_001042425.1:c.734T>C (TFAP2A)	NP_001035890.1:p.Leu245Pro
NM_003220.2:c.746T>C (TFAP2A)	NP_003211.1:p.Leu249Pro
XM_006715175.2:c.881T>C (TFAP2A)	XP_006715238.1:p.Leu294Pro
XM_011514833.1:c.596T>C (TFAP2A)	XP_011513135.1:p.Leu199Pro
NR_145448.1:n.25A>G (TFAP2A-AS2)
XM_011514833.2:c.596T>C (TFAP2A)	XP_011513135.1:p.Leu199Pro
XM_017011232.1:c.992T>C (TFAP2A)	XP_016866721.1:p.Leu331Pro
NM_003220.3:c.746T>C (TFAP2A)	NP_003211.1:p.Leu249Pro
NM_001032280.3:c.728T>C (TFAP2A)	NP_001027451.1:p.Leu243Pro
NM_001042425.2:c.734T>C (TFAP2A)	NP_001035890.1:p.Leu245Pro
NM_001372066.1:c.752T>C (TFAP2A) MANE Select	NP_001358995.1:p.Leu251Pro
NM_001042425.3:c.734T>C (TFAP2A)	NP_001035890.1:p.Leu245Pro