Canonical Allele Identifier: CA1085934156

Gene: TFAP2A

Linked Data

• dbSNP Id: rs1757599313
• gnomAD v3: 6-10404495-T-G
• gnomAD v4: 6-10404495-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404495T>G , CM000668.2:g.10404495T>G	GRCh38
NC_000006.11:g.10404728T>G , CM000668.1:g.10404728T>G	GRCh37
NC_000006.10:g.10512714T>G	NCBI36
NG_016151.1:g.20070A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.746+13A>C	ENSP00000368928.3:n.746+13A>C
ENST00000379613.10:c.770+13A>C MANE Select	ENSP00000368933.5:n.770+13A>C
ENST00000482890.6:c.770+13A>C	ENSP00000418541.2:n.770+13A>C
ENST00000488193.7:c.*261+13A>C	ENSP00000419823.3:n.*261+13A>C
ENST00000498450.3:c.335+13A>C	ENSP00000419961.3:n.335+13A>C
ENST00000319516.8:c.752+13A>C	ENSP00000316516.4:n.752+13A>C
ENST00000379608.7:c.746+13A>C	ENSP00000368928.3:n.746+13A>C
ENST00000379613.7:c.770+13A>C	ENSP00000368933.3:n.770+13A>C
ENST00000461628.5:c.87+13A>C
ENST00000466073.5:c.764+13A>C	ENSP00000417495.1:n.764+13A>C
ENST00000475264.5:c.478+13A>C
ENST00000478375.5:n.764+13A>C
ENST00000482890.5:c.764+13A>C	ENSP00000418541.1:n.764+13A>C
ENST00000488193.5:c.*261+13A>C	ENSP00000419823.1:n.*261+13A>C
ENST00000489805.5:c.*261+13A>C	ENSP00000420568.1:n.*261+13A>C
ENST00000497266.5:n.735+13A>C
ENST00000498450.1:c.335+13A>C	ENSP00000419961.1:n.335+13A>C
NM_001032280.2:c.746+13A>C	NP_001027451.1:n.746+13A>C
NM_001042425.1:c.752+13A>C	NP_001035890.1:n.752+13A>C
NM_003220.2:c.764+13A>C	NP_003211.1:n.764+13A>C
XM_006715175.2:c.899+13A>C	XP_006715238.1:n.899+13A>C
XM_011514833.1:c.614+13A>C	XP_011513135.1:n.614+13A>C
XM_011514833.2:c.614+13A>C	XP_011513135.1:n.614+13A>C
XM_017011232.1:c.1010+13A>C	XP_016866721.1:n.1010+13A>C
NM_003220.3:c.764+13A>C	NP_003211.1:n.764+13A>C
NM_001032280.3:c.746+13A>C	NP_001027451.1:n.746+13A>C
NM_001042425.2:c.752+13A>C	NP_001035890.1:n.752+13A>C
NM_001372066.1:c.770+13A>C MANE Select	NP_001358995.1:n.770+13A>C
NM_001042425.3:c.752+13A>C	NP_001035890.1:n.752+13A>C