Canonical Allele Identifier: CA448717446
Gene: TFAP2A HGNC NCBI
TFAP2A-AS2 HGNC NCBI

Linked Data

gnomAD v4: 6-10404516-C-T
MyVariant Identifiers: chr6:g.10404749C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404516C>T , CM000668.2:g.10404516C>T GRCh38
NC_000006.11:g.10404749C>T , CM000668.1:g.10404749C>T GRCh37
NC_000006.10:g.10512735C>T NCBI36
NG_016151.1:g.20049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.738G>A (TFAP2A) ENSP00000368928.3:p.Val246=
ENST00000379613.10:c.762G>A (TFAP2A) MANE Select ENSP00000368933.5:p.Val254=
ENST00000482890.6:c.762G>A (TFAP2A) ENSP00000418541.2:p.Val254=
ENST00000488193.7:c.*253G>A (TFAP2A) ENSP00000419823.3:n.*253G>A
ENST00000498450.3:c.327G>A (TFAP2A) ENSP00000419961.3:p.Val109=
ENST00000319516.8:c.744G>A (TFAP2A) ENSP00000316516.4:p.Val248=
ENST00000379608.7:c.738G>A (TFAP2A) ENSP00000368928.3:p.Val246=
ENST00000379613.7:c.762G>A (TFAP2A) ENSP00000368933.3:p.Val254=
ENST00000461628.5:c.79G>A (TFAP2A)
ENST00000466073.5:c.756G>A (TFAP2A) ENSP00000417495.1:p.Val252=
ENST00000475264.5:c.470G>A (TFAP2A)
ENST00000478375.5:n.756G>A (TFAP2A)
ENST00000482890.5:c.756G>A (TFAP2A) ENSP00000418541.1:p.Val252=
ENST00000488193.5:c.*253G>A (TFAP2A) ENSP00000419823.1:n.*253G>A
ENST00000489805.5:c.*253G>A (TFAP2A) ENSP00000420568.1:n.*253G>A
ENST00000497266.5:n.727G>A (TFAP2A)
ENST00000498450.1:c.327G>A (TFAP2A) ENSP00000419961.1:p.Val109=
NM_001032280.2:c.738G>A (TFAP2A) NP_001027451.1:p.Val246=
NM_001042425.1:c.744G>A (TFAP2A) NP_001035890.1:p.Val248=
NM_003220.2:c.756G>A (TFAP2A) NP_003211.1:p.Val252=
XM_006715175.2:c.891G>A (TFAP2A) XP_006715238.1:p.Val297=
XM_011514833.1:c.606G>A (TFAP2A) XP_011513135.1:p.Val202=
NR_145448.1:n.15C>T (TFAP2A-AS2)
XM_011514833.2:c.606G>A (TFAP2A) XP_011513135.1:p.Val202=
XM_017011232.1:c.1002G>A (TFAP2A) XP_016866721.1:p.Val334=
NM_003220.3:c.756G>A (TFAP2A) NP_003211.1:p.Val252=
NM_001032280.3:c.738G>A (TFAP2A) NP_001027451.1:p.Val246=
NM_001042425.2:c.744G>A (TFAP2A) NP_001035890.1:p.Val248=
NM_001372066.1:c.762G>A (TFAP2A) MANE Select NP_001358995.1:p.Val254=
NM_001042425.3:c.744G>A (TFAP2A) NP_001035890.1:p.Val248=