Canonical Allele Identifier: CA2739272837

Gene: TFAP2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10398716A>G , CM000668.2:g.10398716A>G	GRCh38
NC_000006.11:g.10398949A>G , CM000668.1:g.10398949A>G	GRCh37
NC_000006.10:g.10506935A>G	NCBI36
NG_016151.1:g.25849T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001372066.1:c.1032-11T>C MANE Select	NP_001358995.1:n.1032-11T>C
ENST00000379613.10:c.1032-11T>C MANE Select	ENSP00000368933.5:n.1032-11T>C
NM_001032280.2:c.1008-11T>C	NP_001027451.1:n.1008-11T>C
NM_001032280.3:c.1008-11T>C	NP_001027451.1:n.1008-11T>C
NM_001042425.1:c.1014-11T>C	NP_001035890.1:n.1014-11T>C
NM_001042425.2:c.1014-11T>C	NP_001035890.1:n.1014-11T>C
NM_001042425.3:c.1014-11T>C	NP_001035890.1:n.1014-11T>C
NM_003220.2:c.1026-11T>C	NP_003211.1:n.1026-11T>C
NM_003220.3:c.1026-11T>C	NP_003211.1:n.1026-11T>C
ENST00000319516.8:c.1014-11T>C	ENSP00000316516.4:n.1014-11T>C
ENST00000379608.7:c.1008-11T>C	ENSP00000368928.3:n.1008-11T>C
ENST00000379608.9:c.1008-11T>C	ENSP00000368928.3:n.1008-11T>C
ENST00000379613.7:c.1032-11T>C	ENSP00000368933.3:n.1032-11T>C
ENST00000461628.5:c.206+3776T>C
ENST00000466073.5:c.884-11T>C	ENSP00000417495.1:n.884-11T>C
ENST00000482890.5:c.1026-11T>C	ENSP00000418541.1:n.1026-11T>C
ENST00000482890.6:c.1032-11T>C	ENSP00000418541.2:n.1032-11T>C
ENST00000488193.5:c.*523-11T>C	ENSP00000419823.1:n.*523-11T>C
ENST00000488193.7:c.*523-11T>C	ENSP00000419823.3:n.*523-11T>C
ENST00000489805.5:c.*523-11T>C	ENSP00000420568.1:n.*523-11T>C
ENST00000497266.5:n.997-11T>C
XM_006715175.2:c.1161-11T>C	XP_006715238.1:n.1161-11T>C
XM_011514833.1:c.876-11T>C	XP_011513135.1:n.876-11T>C
XM_011514833.2:c.876-11T>C	XP_011513135.1:n.876-11T>C
XM_017011232.1:c.1272-11T>C	XP_016866721.1:n.1272-11T>C