Canonical Allele Identifier: CA362701888
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

gnomAD v4: 6-10404715-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404715T>A , CM000668.2:g.10404715T>A GRCh38
NC_000006.11:g.10404948T>A , CM000668.1:g.10404948T>A GRCh37
NC_000006.10:g.10512934T>A NCBI36
NG_016151.1:g.19850A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.539A>T (TFAP2A) ENSP00000368928.3:p.Asn180Ile
ENST00000379613.10:c.563A>T (TFAP2A) MANE Select ENSP00000368933.5:p.Asn188Ile
ENST00000482890.6:c.563A>T (TFAP2A) ENSP00000418541.2:p.Asn188Ile
ENST00000488193.7:c.*54A>T (TFAP2A) ENSP00000419823.3:n.*54A>T
ENST00000498450.3:c.128A>T (TFAP2A) ENSP00000419961.3:p.Asn43Ile
ENST00000319516.8:c.545A>T (TFAP2A) ENSP00000316516.4:p.Asn182Ile
ENST00000379608.7:c.539A>T (TFAP2A) ENSP00000368928.3:p.Asn180Ile
ENST00000379613.7:c.563A>T (TFAP2A) ENSP00000368933.3:p.Asn188Ile
ENST00000466073.5:c.557A>T (TFAP2A) ENSP00000417495.1:p.Asn186Ile
ENST00000473652.1:n.611A>T (TFAP2A)
ENST00000475264.5:c.271A>T (TFAP2A)
ENST00000478375.5:n.557A>T (TFAP2A)
ENST00000482890.5:c.557A>T (TFAP2A) ENSP00000418541.1:p.Asn186Ile
ENST00000488193.5:c.*54A>T (TFAP2A) ENSP00000419823.1:n.*54A>T
ENST00000489805.5:c.*54A>T (TFAP2A) ENSP00000420568.1:n.*54A>T
ENST00000490875.5:n.799A>T (TFAP2A)
ENST00000497266.5:n.528A>T (TFAP2A)
ENST00000498450.1:c.128A>T (TFAP2A) ENSP00000419961.1:p.Asn43Ile
NM_001032280.2:c.539A>T (TFAP2A) NP_001027451.1:p.Asn180Ile
NM_001042425.1:c.545A>T (TFAP2A) NP_001035890.1:p.Asn182Ile
NM_003220.2:c.557A>T (TFAP2A) NP_003211.1:p.Asn186Ile
XM_006715175.2:c.692A>T (TFAP2A) XP_006715238.1:p.Asn231Ile
XM_011514833.1:c.407A>T (TFAP2A) XP_011513135.1:p.Asn136Ile
NR_145448.1:n.214T>A (TFAP2A-AS2)
XM_011514833.2:c.407A>T (TFAP2A) XP_011513135.1:p.Asn136Ile
XM_017011232.1:c.803A>T (TFAP2A) XP_016866721.1:p.Asn268Ile
NM_003220.3:c.557A>T (TFAP2A) NP_003211.1:p.Asn186Ile
NM_001032280.3:c.539A>T (TFAP2A) NP_001027451.1:p.Asn180Ile
NM_001042425.2:c.545A>T (TFAP2A) NP_001035890.1:p.Asn182Ile
NM_001372066.1:c.563A>T (TFAP2A) MANE Select NP_001358995.1:p.Asn188Ile
NM_001042425.3:c.545A>T (TFAP2A) NP_001035890.1:p.Asn182Ile