Canonical Allele Identifier: CA362701150
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

gnomAD v4: 6-10404515-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404515G>C , CM000668.2:g.10404515G>C GRCh38
NC_000006.11:g.10404748G>C , CM000668.1:g.10404748G>C GRCh37
NC_000006.10:g.10512734G>C NCBI36
NG_016151.1:g.20050C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.739C>G (TFAP2A) ENSP00000368928.3:p.Leu247Val
ENST00000379613.10:c.763C>G (TFAP2A) MANE Select ENSP00000368933.5:p.Leu255Val
ENST00000482890.6:c.763C>G (TFAP2A) ENSP00000418541.2:p.Leu255Val
ENST00000488193.7:c.*254C>G (TFAP2A) ENSP00000419823.3:n.*254C>G
ENST00000498450.3:c.328C>G (TFAP2A) ENSP00000419961.3:p.Leu110Val
ENST00000319516.8:c.745C>G (TFAP2A) ENSP00000316516.4:p.Leu249Val
ENST00000379608.7:c.739C>G (TFAP2A) ENSP00000368928.3:p.Leu247Val
ENST00000379613.7:c.763C>G (TFAP2A) ENSP00000368933.3:p.Leu255Val
ENST00000461628.5:c.80C>G (TFAP2A)
ENST00000466073.5:c.757C>G (TFAP2A) ENSP00000417495.1:p.Leu253Val
ENST00000475264.5:c.471C>G (TFAP2A)
ENST00000478375.5:n.757C>G (TFAP2A)
ENST00000482890.5:c.757C>G (TFAP2A) ENSP00000418541.1:p.Leu253Val
ENST00000488193.5:c.*254C>G (TFAP2A) ENSP00000419823.1:n.*254C>G
ENST00000489805.5:c.*254C>G (TFAP2A) ENSP00000420568.1:n.*254C>G
ENST00000497266.5:n.728C>G (TFAP2A)
ENST00000498450.1:c.328C>G (TFAP2A) ENSP00000419961.1:p.Leu110Val
NM_001032280.2:c.739C>G (TFAP2A) NP_001027451.1:p.Leu247Val
NM_001042425.1:c.745C>G (TFAP2A) NP_001035890.1:p.Leu249Val
NM_003220.2:c.757C>G (TFAP2A) NP_003211.1:p.Leu253Val
XM_006715175.2:c.892C>G (TFAP2A) XP_006715238.1:p.Leu298Val
XM_011514833.1:c.607C>G (TFAP2A) XP_011513135.1:p.Leu203Val
NR_145448.1:n.14G>C (TFAP2A-AS2)
XM_011514833.2:c.607C>G (TFAP2A) XP_011513135.1:p.Leu203Val
XM_017011232.1:c.1003C>G (TFAP2A) XP_016866721.1:p.Leu335Val
NM_003220.3:c.757C>G (TFAP2A) NP_003211.1:p.Leu253Val
NM_001032280.3:c.739C>G (TFAP2A) NP_001027451.1:p.Leu247Val
NM_001042425.2:c.745C>G (TFAP2A) NP_001035890.1:p.Leu249Val
NM_001372066.1:c.763C>G (TFAP2A) MANE Select NP_001358995.1:p.Leu255Val
NM_001042425.3:c.745C>G (TFAP2A) NP_001035890.1:p.Leu249Val