Canonical Allele Identifier: CA2580074210

Gene: TFAP2A TFAP2A-AS2

Linked Data

• ClinVar Variation Id: 17939
• ClinVar RCV Id: RCV000019532

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404565_10404576del , CM000668.2:g.10404565_10404576del	GRCh38
NC_000006.11:g.10404798_10404809del , CM000668.1:g.10404798_10404809del	GRCh37
NC_000006.10:g.10512784_10512795del	NCBI36
NG_016151.1:g.19990_20001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.679_690del (TFAP2A)	ENSP00000368928.3:p.Glu227_Arg230del
ENST00000379613.10:c.703_714del (TFAP2A) MANE Select	ENSP00000368933.5:p.Glu235_Arg238del
ENST00000482890.6:c.703_714del (TFAP2A)	ENSP00000418541.2:p.Glu235_Arg238del
ENST00000488193.7:c.*194_*205del (TFAP2A)	ENSP00000419823.3:n.*194_*205del
ENST00000498450.3:c.268_279del (TFAP2A)	ENSP00000419961.3:p.Glu90_Arg93del
ENST00000319516.8:c.685_696del (TFAP2A)	ENSP00000316516.4:p.Glu229_Arg232del
ENST00000379608.7:c.679_690del (TFAP2A)	ENSP00000368928.3:p.Glu227_Arg230del
ENST00000379613.7:c.703_714del (TFAP2A)	ENSP00000368933.3:p.Glu235_Arg238del
ENST00000461628.5:c.20_31del (TFAP2A)
ENST00000466073.5:c.697_708del (TFAP2A)	ENSP00000417495.1:p.Glu233_Arg236del
ENST00000475264.5:c.411_422del (TFAP2A)
ENST00000478375.5:n.697_708del (TFAP2A)
ENST00000482890.5:c.697_708del (TFAP2A)	ENSP00000418541.1:p.Glu233_Arg236del
ENST00000488193.5:c.*194_*205del (TFAP2A)	ENSP00000419823.1:n.*194_*205del
ENST00000489805.5:c.*194_*205del (TFAP2A)	ENSP00000420568.1:n.*194_*205del
ENST00000497266.5:n.668_679del (TFAP2A)
ENST00000498450.1:c.268_279del (TFAP2A)	ENSP00000419961.1:p.Glu90_Arg93del
NM_001032280.2:c.679_690del (TFAP2A)	NP_001027451.1:p.Glu227_Arg230del
NM_001042425.1:c.685_696del (TFAP2A)	NP_001035890.1:p.Glu229_Arg232del
NM_003220.2:c.697_708del (TFAP2A)	NP_003211.1:p.Glu233_Arg236del
XM_006715175.2:c.832_843del (TFAP2A)	XP_006715238.1:p.Glu278_Arg281del
XM_011514833.1:c.547_558del (TFAP2A)	XP_011513135.1:p.Glu183_Arg186del
NR_145448.1:n.64_75del (TFAP2A-AS2)
XM_011514833.2:c.547_558del (TFAP2A)	XP_011513135.1:p.Glu183_Arg186del
XM_017011232.1:c.943_954del (TFAP2A)	XP_016866721.1:p.Glu315_Arg318del
NM_003220.3:c.697_708del (TFAP2A)	NP_003211.1:p.Glu233_Arg236del
NM_001032280.3:c.679_690del (TFAP2A)	NP_001027451.1:p.Glu227_Arg230del
NM_001042425.2:c.685_696del (TFAP2A)	NP_001035890.1:p.Glu229_Arg232del
NM_001372066.1:c.703_714del (TFAP2A) MANE Select	NP_001358995.1:p.Glu235_Arg238del
NM_001042425.3:c.685_696del (TFAP2A)	NP_001035890.1:p.Glu229_Arg232del