Canonical Allele Identifier: CA362701245

Gene: TFAP2A TFAP2A-AS2

Linked Data

• dbSNP Id: rs1479723294
• MyVariant Identifiers: chr6:g.10404793G>T (hg19) ; chr6:g.10404560G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404560G>T , CM000668.2:g.10404560G>T	GRCh38
NC_000006.11:g.10404793G>T , CM000668.1:g.10404793G>T	GRCh37
NC_000006.10:g.10512779G>T	NCBI36
NG_016151.1:g.20005C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.694C>A (TFAP2A)	ENSP00000368928.3:p.Leu232Ile
ENST00000379613.10:c.718C>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Leu240Ile
ENST00000482890.6:c.718C>A (TFAP2A)	ENSP00000418541.2:p.Leu240Ile
ENST00000488193.7:c.*209C>A (TFAP2A)	ENSP00000419823.3:n.*209C>A
ENST00000498450.3:c.283C>A (TFAP2A)	ENSP00000419961.3:p.Leu95Ile
ENST00000319516.8:c.700C>A (TFAP2A)	ENSP00000316516.4:p.Leu234Ile
ENST00000379608.7:c.694C>A (TFAP2A)	ENSP00000368928.3:p.Leu232Ile
ENST00000379613.7:c.718C>A (TFAP2A)	ENSP00000368933.3:p.Leu240Ile
ENST00000461628.5:c.35C>A (TFAP2A)
ENST00000466073.5:c.712C>A (TFAP2A)	ENSP00000417495.1:p.Leu238Ile
ENST00000475264.5:c.426C>A (TFAP2A)
ENST00000478375.5:n.712C>A (TFAP2A)
ENST00000482890.5:c.712C>A (TFAP2A)	ENSP00000418541.1:p.Leu238Ile
ENST00000488193.5:c.*209C>A (TFAP2A)	ENSP00000419823.1:n.*209C>A
ENST00000489805.5:c.*209C>A (TFAP2A)	ENSP00000420568.1:n.*209C>A
ENST00000497266.5:n.683C>A (TFAP2A)
ENST00000498450.1:c.283C>A (TFAP2A)	ENSP00000419961.1:p.Leu95Ile
NM_001032280.2:c.694C>A (TFAP2A)	NP_001027451.1:p.Leu232Ile
NM_001042425.1:c.700C>A (TFAP2A)	NP_001035890.1:p.Leu234Ile
NM_003220.2:c.712C>A (TFAP2A)	NP_003211.1:p.Leu238Ile
XM_006715175.2:c.847C>A (TFAP2A)	XP_006715238.1:p.Leu283Ile
XM_011514833.1:c.562C>A (TFAP2A)	XP_011513135.1:p.Leu188Ile
NR_145448.1:n.59G>T (TFAP2A-AS2)
XM_011514833.2:c.562C>A (TFAP2A)	XP_011513135.1:p.Leu188Ile
XM_017011232.1:c.958C>A (TFAP2A)	XP_016866721.1:p.Leu320Ile
NM_003220.3:c.712C>A (TFAP2A)	NP_003211.1:p.Leu238Ile
NM_001032280.3:c.694C>A (TFAP2A)	NP_001027451.1:p.Leu232Ile
NM_001042425.2:c.700C>A (TFAP2A)	NP_001035890.1:p.Leu234Ile
NM_001372066.1:c.718C>A (TFAP2A) MANE Select	NP_001358995.1:p.Leu240Ile
NM_001042425.3:c.700C>A (TFAP2A)	NP_001035890.1:p.Leu234Ile