Canonical Allele Identifier: CA362701165

Gene: TFAP2A TFAP2A-AS2

Linked Data

• ClinVar Variation Id: 547800
• ClinVar RCV Id: RCV000660303
• dbSNP Id: rs1554111717
• MyVariant Identifiers: chr6:g.10404756C>T (hg19) ; chr6:g.10404523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404523C>T , CM000668.2:g.10404523C>T	GRCh38
NC_000006.11:g.10404756C>T , CM000668.1:g.10404756C>T	GRCh37
NC_000006.10:g.10512742C>T	NCBI36
NG_016151.1:g.20042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.731G>A (TFAP2A)	ENSP00000368928.3:p.Gly244Asp
ENST00000379613.10:c.755G>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Gly252Asp
ENST00000482890.6:c.755G>A (TFAP2A)	ENSP00000418541.2:p.Gly252Asp
ENST00000488193.7:c.*246G>A (TFAP2A)	ENSP00000419823.3:n.*246G>A
ENST00000498450.3:c.320G>A (TFAP2A)	ENSP00000419961.3:p.Gly107Asp
ENST00000319516.8:c.737G>A (TFAP2A)	ENSP00000316516.4:p.Gly246Asp
ENST00000379608.7:c.731G>A (TFAP2A)	ENSP00000368928.3:p.Gly244Asp
ENST00000379613.7:c.755G>A (TFAP2A)	ENSP00000368933.3:p.Gly252Asp
ENST00000461628.5:c.72G>A (TFAP2A)
ENST00000466073.5:c.749G>A (TFAP2A)	ENSP00000417495.1:p.Gly250Asp
ENST00000475264.5:c.463G>A (TFAP2A)
ENST00000478375.5:n.749G>A (TFAP2A)
ENST00000482890.5:c.749G>A (TFAP2A)	ENSP00000418541.1:p.Gly250Asp
ENST00000488193.5:c.*246G>A (TFAP2A)	ENSP00000419823.1:n.*246G>A
ENST00000489805.5:c.*246G>A (TFAP2A)	ENSP00000420568.1:n.*246G>A
ENST00000497266.5:n.720G>A (TFAP2A)
ENST00000498450.1:c.320G>A (TFAP2A)	ENSP00000419961.1:p.Gly107Asp
NM_001032280.2:c.731G>A (TFAP2A)	NP_001027451.1:p.Gly244Asp
NM_001042425.1:c.737G>A (TFAP2A)	NP_001035890.1:p.Gly246Asp
NM_003220.2:c.749G>A (TFAP2A)	NP_003211.1:p.Gly250Asp
XM_006715175.2:c.884G>A (TFAP2A)	XP_006715238.1:p.Gly295Asp
XM_011514833.1:c.599G>A (TFAP2A)	XP_011513135.1:p.Gly200Asp
NR_145448.1:n.22C>T (TFAP2A-AS2)
XM_011514833.2:c.599G>A (TFAP2A)	XP_011513135.1:p.Gly200Asp
XM_017011232.1:c.995G>A (TFAP2A)	XP_016866721.1:p.Gly332Asp
NM_003220.3:c.749G>A (TFAP2A)	NP_003211.1:p.Gly250Asp
NM_001032280.3:c.731G>A (TFAP2A)	NP_001027451.1:p.Gly244Asp
NM_001042425.2:c.737G>A (TFAP2A)	NP_001035890.1:p.Gly246Asp
NM_001372066.1:c.755G>A (TFAP2A) MANE Select	NP_001358995.1:p.Gly252Asp
NM_001042425.3:c.737G>A (TFAP2A)	NP_001035890.1:p.Gly246Asp