Canonical Allele Identifier: CA362701202
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs929697206
gnomAD v2: 6-10404775-G-A
gnomAD v4: 6-10404542-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404542G>A , CM000668.2:g.10404542G>A GRCh38
NC_000006.11:g.10404775G>A , CM000668.1:g.10404775G>A GRCh37
NC_000006.10:g.10512761G>A NCBI36
NG_016151.1:g.20023C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.712C>T (TFAP2A) ENSP00000368928.3:p.Leu238Phe
ENST00000379613.10:c.736C>T (TFAP2A) MANE Select ENSP00000368933.5:p.Leu246Phe
ENST00000482890.6:c.736C>T (TFAP2A) ENSP00000418541.2:p.Leu246Phe
ENST00000488193.7:c.*227C>T (TFAP2A) ENSP00000419823.3:n.*227C>T
ENST00000498450.3:c.301C>T (TFAP2A) ENSP00000419961.3:p.Leu101Phe
ENST00000319516.8:c.718C>T (TFAP2A) ENSP00000316516.4:p.Leu240Phe
ENST00000379608.7:c.712C>T (TFAP2A) ENSP00000368928.3:p.Leu238Phe
ENST00000379613.7:c.736C>T (TFAP2A) ENSP00000368933.3:p.Leu246Phe
ENST00000461628.5:c.53C>T (TFAP2A)
ENST00000466073.5:c.730C>T (TFAP2A) ENSP00000417495.1:p.Leu244Phe
ENST00000475264.5:c.444C>T (TFAP2A)
ENST00000478375.5:n.730C>T (TFAP2A)
ENST00000482890.5:c.730C>T (TFAP2A) ENSP00000418541.1:p.Leu244Phe
ENST00000488193.5:c.*227C>T (TFAP2A) ENSP00000419823.1:n.*227C>T
ENST00000489805.5:c.*227C>T (TFAP2A) ENSP00000420568.1:n.*227C>T
ENST00000497266.5:n.701C>T (TFAP2A)
ENST00000498450.1:c.301C>T (TFAP2A) ENSP00000419961.1:p.Leu101Phe
NM_001032280.2:c.712C>T (TFAP2A) NP_001027451.1:p.Leu238Phe
NM_001042425.1:c.718C>T (TFAP2A) NP_001035890.1:p.Leu240Phe
NM_003220.2:c.730C>T (TFAP2A) NP_003211.1:p.Leu244Phe
XM_006715175.2:c.865C>T (TFAP2A) XP_006715238.1:p.Leu289Phe
XM_011514833.1:c.580C>T (TFAP2A) XP_011513135.1:p.Leu194Phe
NR_145448.1:n.41G>A (TFAP2A-AS2)
XM_011514833.2:c.580C>T (TFAP2A) XP_011513135.1:p.Leu194Phe
XM_017011232.1:c.976C>T (TFAP2A) XP_016866721.1:p.Leu326Phe
NM_003220.3:c.730C>T (TFAP2A) NP_003211.1:p.Leu244Phe
NM_001032280.3:c.712C>T (TFAP2A) NP_001027451.1:p.Leu238Phe
NM_001042425.2:c.718C>T (TFAP2A) NP_001035890.1:p.Leu240Phe
NM_001372066.1:c.736C>T (TFAP2A) MANE Select NP_001358995.1:p.Leu246Phe
NM_001042425.3:c.718C>T (TFAP2A) NP_001035890.1:p.Leu240Phe