Canonical Allele Identifier: CA004715

Gene: TFAP2A TFAP2A-AS2

Linked Data

• ClinVar Variation Id: 192350
• ClinVar RCV Id: RCV000172980
• dbSNP Id: rs793888540
• MyVariant Identifiers: chr6:g.10404856G>T (hg19) ; chr6:g.10404623G>T (hg38)
• PubMed: PMID:25590586

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404623G>T , CM000668.2:g.10404623G>T	GRCh38
NC_000006.11:g.10404856G>T , CM000668.1:g.10404856G>T	GRCh37
NC_000006.10:g.10512842G>T	NCBI36
NG_016151.1:g.19942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.631C>A (TFAP2A)	ENSP00000368928.3:p.Arg211Ser
ENST00000379613.10:c.655C>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Arg219Ser
ENST00000482890.6:c.655C>A (TFAP2A)	ENSP00000418541.2:p.Arg219Ser
ENST00000488193.7:c.*146C>A (TFAP2A)	ENSP00000419823.3:n.*146C>A
ENST00000498450.3:c.220C>A (TFAP2A)	ENSP00000419961.3:p.Arg74Ser
ENST00000319516.8:c.637C>A (TFAP2A)	ENSP00000316516.4:p.Arg213Ser
ENST00000379608.7:c.631C>A (TFAP2A)	ENSP00000368928.3:p.Arg211Ser
ENST00000379613.7:c.655C>A (TFAP2A)	ENSP00000368933.3:p.Arg219Ser
ENST00000466073.5:c.649C>A (TFAP2A)	ENSP00000417495.1:p.Arg217Ser
ENST00000475264.5:c.363C>A (TFAP2A)
ENST00000478375.5:n.649C>A (TFAP2A)
ENST00000482890.5:c.649C>A (TFAP2A)	ENSP00000418541.1:p.Arg217Ser
ENST00000488193.5:c.*146C>A (TFAP2A)	ENSP00000419823.1:n.*146C>A
ENST00000489805.5:c.*146C>A (TFAP2A)	ENSP00000420568.1:n.*146C>A
ENST00000490875.5:n.891C>A (TFAP2A)
ENST00000497266.5:n.620C>A (TFAP2A)
ENST00000498450.1:c.220C>A (TFAP2A)	ENSP00000419961.1:p.Arg74Ser
NM_001032280.2:c.631C>A (TFAP2A)	NP_001027451.1:p.Arg211Ser
NM_001042425.1:c.637C>A (TFAP2A)	NP_001035890.1:p.Arg213Ser
NM_003220.2:c.649C>A (TFAP2A)	NP_003211.1:p.Arg217Ser
XM_006715175.2:c.784C>A (TFAP2A)	XP_006715238.1:p.Arg262Ser
XM_011514833.1:c.499C>A (TFAP2A)	XP_011513135.1:p.Arg167Ser
NR_145448.1:n.122G>T (TFAP2A-AS2)
XM_011514833.2:c.499C>A (TFAP2A)	XP_011513135.1:p.Arg167Ser
XM_017011232.1:c.895C>A (TFAP2A)	XP_016866721.1:p.Arg299Ser
NM_003220.3:c.649C>A (TFAP2A)	NP_003211.1:p.Arg217Ser
NM_001032280.3:c.631C>A (TFAP2A)	NP_001027451.1:p.Arg211Ser
NM_001042425.2:c.637C>A (TFAP2A)	NP_001035890.1:p.Arg213Ser
NM_001372066.1:c.655C>A (TFAP2A) MANE Select	NP_001358995.1:p.Arg219Ser
NM_001042425.3:c.637C>A (TFAP2A)	NP_001035890.1:p.Arg213Ser