Canonical Allele Identifier: CA3631079

Gene: TFAP2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10398474G>A , CM000668.2:g.10398474G>A	GRCh38
NC_000006.11:g.10398707G>A , CM000668.1:g.10398707G>A	GRCh37
NC_000006.10:g.10506693G>A	NCBI36
NG_016151.1:g.26091C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372066.1:c.1263C>T MANE Select	NP_001358995.1:p.Asn421=
ENST00000379613.10:c.1263C>T MANE Select	ENSP00000368933.5:p.Asn421=
NM_001032280.2:c.1239C>T	NP_001027451.1:p.Asn413=
NM_001032280.3:c.1239C>T	NP_001027451.1:p.Asn413=
NM_001042425.1:c.1245C>T	NP_001035890.1:p.Asn415=
NM_001042425.2:c.1245C>T	NP_001035890.1:p.Asn415=
NM_001042425.3:c.1245C>T	NP_001035890.1:p.Asn415=
NM_003220.2:c.1257C>T	NP_003211.1:p.Asn419=
NM_003220.3:c.1257C>T	NP_003211.1:p.Asn419=
ENST00000319516.8:c.1245C>T	ENSP00000316516.4:p.Asn415=
ENST00000379608.7:c.1239C>T	ENSP00000368928.3:p.Asn413=
ENST00000379608.9:c.1239C>T	ENSP00000368928.3:p.Asn413=
ENST00000379613.7:c.1263C>T	ENSP00000368933.3:p.Asn421=
ENST00000461628.5:c.206+4018C>T
ENST00000482890.5:c.1257C>T	ENSP00000418541.1:p.Asn419=
ENST00000482890.6:c.1263C>T	ENSP00000418541.2:p.Asn421=
ENST00000488193.5:c.*754C>T	ENSP00000419823.1:n.*754C>T
ENST00000488193.7:c.*754C>T	ENSP00000419823.3:n.*754C>T
ENST00000489805.5:c.*754C>T	ENSP00000420568.1:n.*754C>T
XM_006715175.2:c.1392C>T	XP_006715238.1:p.Asn464=
XM_011514833.1:c.1107C>T	XP_011513135.1:p.Asn369=
XM_011514833.2:c.1107C>T	XP_011513135.1:p.Asn369=
XM_017011232.1:c.1503C>T	XP_016866721.1:p.Asn501=