Canonical Allele Identifier: CA362701945

Gene: TFAP2A TFAP2A-AS2

Linked Data

• gnomAD v4: 6-10404733-A-G
• MyVariant Identifiers: chr6:g.10404966A>G (hg19) ; chr6:g.10404733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404733A>G , CM000668.2:g.10404733A>G	GRCh38
NC_000006.11:g.10404966A>G , CM000668.1:g.10404966A>G	GRCh37
NC_000006.10:g.10512952A>G	NCBI36
NG_016151.1:g.19832T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.521T>C (TFAP2A)	ENSP00000368928.3:p.Val174Ala
ENST00000379613.10:c.545T>C (TFAP2A) MANE Select	ENSP00000368933.5:p.Val182Ala
ENST00000482890.6:c.545T>C (TFAP2A)	ENSP00000418541.2:p.Val182Ala
ENST00000488193.7:c.*36T>C (TFAP2A)	ENSP00000419823.3:n.*36T>C
ENST00000498450.3:c.110T>C (TFAP2A)	ENSP00000419961.3:p.Val37Ala
ENST00000319516.8:c.527T>C (TFAP2A)	ENSP00000316516.4:p.Val176Ala
ENST00000379608.7:c.521T>C (TFAP2A)	ENSP00000368928.3:p.Val174Ala
ENST00000379613.7:c.545T>C (TFAP2A)	ENSP00000368933.3:p.Val182Ala
ENST00000466073.5:c.539T>C (TFAP2A)	ENSP00000417495.1:p.Val180Ala
ENST00000473652.1:n.593T>C (TFAP2A)
ENST00000475264.5:c.253T>C (TFAP2A)
ENST00000478375.5:n.539T>C (TFAP2A)
ENST00000482890.5:c.539T>C (TFAP2A)	ENSP00000418541.1:p.Val180Ala
ENST00000488193.5:c.*36T>C (TFAP2A)	ENSP00000419823.1:n.*36T>C
ENST00000489805.5:c.*36T>C (TFAP2A)	ENSP00000420568.1:n.*36T>C
ENST00000490875.5:n.781T>C (TFAP2A)
ENST00000497266.5:n.510T>C (TFAP2A)
ENST00000498450.1:c.110T>C (TFAP2A)	ENSP00000419961.1:p.Val37Ala
NM_001032280.2:c.521T>C (TFAP2A)	NP_001027451.1:p.Val174Ala
NM_001042425.1:c.527T>C (TFAP2A)	NP_001035890.1:p.Val176Ala
NM_003220.2:c.539T>C (TFAP2A)	NP_003211.1:p.Val180Ala
XM_006715175.2:c.674T>C (TFAP2A)	XP_006715238.1:p.Val225Ala
XM_011514833.1:c.389T>C (TFAP2A)	XP_011513135.1:p.Val130Ala
NR_145448.1:n.232A>G (TFAP2A-AS2)
XM_011514833.2:c.389T>C (TFAP2A)	XP_011513135.1:p.Val130Ala
XM_017011232.1:c.785T>C (TFAP2A)	XP_016866721.1:p.Val262Ala
NM_003220.3:c.539T>C (TFAP2A)	NP_003211.1:p.Val180Ala
NM_001032280.3:c.521T>C (TFAP2A)	NP_001027451.1:p.Val174Ala
NM_001042425.2:c.527T>C (TFAP2A)	NP_001035890.1:p.Val176Ala
NM_001372066.1:c.545T>C (TFAP2A) MANE Select	NP_001358995.1:p.Val182Ala
NM_001042425.3:c.527T>C (TFAP2A)	NP_001035890.1:p.Val176Ala