Canonical Allele Identifier: CA362698924

Gene: TFAP2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10398452T>C , CM000668.2:g.10398452T>C	GRCh38
NC_000006.11:g.10398685T>C , CM000668.1:g.10398685T>C	GRCh37
NC_000006.10:g.10506671T>C	NCBI36
NG_016151.1:g.26113A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.1261A>G	ENSP00000368928.3:p.Lys421Glu
ENST00000379613.10:c.1285A>G MANE Select	ENSP00000368933.5:p.Lys429Glu
ENST00000482890.6:c.1285A>G	ENSP00000418541.2:p.Lys429Glu
ENST00000488193.7:c.*776A>G	ENSP00000419823.3:n.*776A>G
ENST00000319516.8:c.1267A>G	ENSP00000316516.4:p.Lys423Glu
ENST00000379608.7:c.1261A>G	ENSP00000368928.3:p.Lys421Glu
ENST00000379613.7:c.1285A>G	ENSP00000368933.3:p.Lys429Glu
ENST00000461628.5:c.206+4040A>G
ENST00000482890.5:c.1279A>G	ENSP00000418541.1:p.Lys427Glu
ENST00000488193.5:c.*776A>G	ENSP00000419823.1:n.*776A>G
ENST00000489805.5:c.*776A>G	ENSP00000420568.1:n.*776A>G
NM_001032280.2:c.1261A>G	NP_001027451.1:p.Lys421Glu
NM_001042425.1:c.1267A>G	NP_001035890.1:p.Lys423Glu
NM_003220.2:c.1279A>G	NP_003211.1:p.Lys427Glu
XM_006715175.2:c.1414A>G	XP_006715238.1:p.Lys472Glu
XM_011514833.1:c.1129A>G	XP_011513135.1:p.Lys377Glu
XM_011514833.2:c.1129A>G	XP_011513135.1:p.Lys377Glu
XM_017011232.1:c.1525A>G	XP_016866721.1:p.Lys509Glu
NM_003220.3:c.1279A>G	NP_003211.1:p.Lys427Glu
NM_001032280.3:c.1261A>G	NP_001027451.1:p.Lys421Glu
NM_001042425.2:c.1267A>G	NP_001035890.1:p.Lys423Glu
NM_001372066.1:c.1285A>G MANE Select	NP_001358995.1:p.Lys429Glu
NM_001042425.3:c.1267A>G	NP_001035890.1:p.Lys423Glu