Canonical Allele Identifier: CA362701241

Gene: TFAP2A TFAP2A-AS2

Linked Data

• ClinVar Variation Id: 547799
• ClinVar RCV Id: RCV000660302
• dbSNP Id: rs1554111734
• MyVariant Identifiers: chr6:g.10404792A>G (hg19) ; chr6:g.10404559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404559A>G , CM000668.2:g.10404559A>G	GRCh38
NC_000006.11:g.10404792A>G , CM000668.1:g.10404792A>G	GRCh37
NC_000006.10:g.10512778A>G	NCBI36
NG_016151.1:g.20006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.695T>C (TFAP2A)	ENSP00000368928.3:p.Leu232Pro
ENST00000379613.10:c.719T>C (TFAP2A) MANE Select	ENSP00000368933.5:p.Leu240Pro
ENST00000482890.6:c.719T>C (TFAP2A)	ENSP00000418541.2:p.Leu240Pro
ENST00000488193.7:c.*210T>C (TFAP2A)	ENSP00000419823.3:n.*210T>C
ENST00000498450.3:c.284T>C (TFAP2A)	ENSP00000419961.3:p.Leu95Pro
ENST00000319516.8:c.701T>C (TFAP2A)	ENSP00000316516.4:p.Leu234Pro
ENST00000379608.7:c.695T>C (TFAP2A)	ENSP00000368928.3:p.Leu232Pro
ENST00000379613.7:c.719T>C (TFAP2A)	ENSP00000368933.3:p.Leu240Pro
ENST00000461628.5:c.36T>C (TFAP2A)
ENST00000466073.5:c.713T>C (TFAP2A)	ENSP00000417495.1:p.Leu238Pro
ENST00000475264.5:c.427T>C (TFAP2A)
ENST00000478375.5:n.713T>C (TFAP2A)
ENST00000482890.5:c.713T>C (TFAP2A)	ENSP00000418541.1:p.Leu238Pro
ENST00000488193.5:c.*210T>C (TFAP2A)	ENSP00000419823.1:n.*210T>C
ENST00000489805.5:c.*210T>C (TFAP2A)	ENSP00000420568.1:n.*210T>C
ENST00000497266.5:n.684T>C (TFAP2A)
ENST00000498450.1:c.284T>C (TFAP2A)	ENSP00000419961.1:p.Leu95Pro
NM_001032280.2:c.695T>C (TFAP2A)	NP_001027451.1:p.Leu232Pro
NM_001042425.1:c.701T>C (TFAP2A)	NP_001035890.1:p.Leu234Pro
NM_003220.2:c.713T>C (TFAP2A)	NP_003211.1:p.Leu238Pro
XM_006715175.2:c.848T>C (TFAP2A)	XP_006715238.1:p.Leu283Pro
XM_011514833.1:c.563T>C (TFAP2A)	XP_011513135.1:p.Leu188Pro
NR_145448.1:n.58A>G (TFAP2A-AS2)
XM_011514833.2:c.563T>C (TFAP2A)	XP_011513135.1:p.Leu188Pro
XM_017011232.1:c.959T>C (TFAP2A)	XP_016866721.1:p.Leu320Pro
NM_003220.3:c.713T>C (TFAP2A)	NP_003211.1:p.Leu238Pro
NM_001032280.3:c.695T>C (TFAP2A)	NP_001027451.1:p.Leu232Pro
NM_001042425.2:c.701T>C (TFAP2A)	NP_001035890.1:p.Leu234Pro
NM_001372066.1:c.719T>C (TFAP2A) MANE Select	NP_001358995.1:p.Leu240Pro
NM_001042425.3:c.701T>C (TFAP2A)	NP_001035890.1:p.Leu234Pro