Canonical Allele Identifier: CA362701959

Gene: TFAP2A TFAP2A-AS2

Linked Data

• MyVariant Identifiers: chr6:g.10404967C>A (hg19) ; chr6:g.10404734C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404734C>A , CM000668.2:g.10404734C>A	GRCh38
NC_000006.11:g.10404967C>A , CM000668.1:g.10404967C>A	GRCh37
NC_000006.10:g.10512953C>A	NCBI36
NG_016151.1:g.19831G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.520G>T (TFAP2A)	ENSP00000368928.3:p.Val174Leu
ENST00000379613.10:c.544G>T (TFAP2A) MANE Select	ENSP00000368933.5:p.Val182Leu
ENST00000482890.6:c.544G>T (TFAP2A)	ENSP00000418541.2:p.Val182Leu
ENST00000488193.7:c.*35G>T (TFAP2A)	ENSP00000419823.3:n.*35G>T
ENST00000498450.3:c.109G>T (TFAP2A)	ENSP00000419961.3:p.Val37Leu
ENST00000319516.8:c.526G>T (TFAP2A)	ENSP00000316516.4:p.Val176Leu
ENST00000379608.7:c.520G>T (TFAP2A)	ENSP00000368928.3:p.Val174Leu
ENST00000379613.7:c.544G>T (TFAP2A)	ENSP00000368933.3:p.Val182Leu
ENST00000466073.5:c.538G>T (TFAP2A)	ENSP00000417495.1:p.Val180Leu
ENST00000473652.1:n.592G>T (TFAP2A)
ENST00000475264.5:c.252G>T (TFAP2A)
ENST00000478375.5:n.538G>T (TFAP2A)
ENST00000482890.5:c.538G>T (TFAP2A)	ENSP00000418541.1:p.Val180Leu
ENST00000488193.5:c.*35G>T (TFAP2A)	ENSP00000419823.1:n.*35G>T
ENST00000489805.5:c.*35G>T (TFAP2A)	ENSP00000420568.1:n.*35G>T
ENST00000490875.5:n.780G>T (TFAP2A)
ENST00000497266.5:n.509G>T (TFAP2A)
ENST00000498450.1:c.109G>T (TFAP2A)	ENSP00000419961.1:p.Val37Leu
NM_001032280.2:c.520G>T (TFAP2A)	NP_001027451.1:p.Val174Leu
NM_001042425.1:c.526G>T (TFAP2A)	NP_001035890.1:p.Val176Leu
NM_003220.2:c.538G>T (TFAP2A)	NP_003211.1:p.Val180Leu
XM_006715175.2:c.673G>T (TFAP2A)	XP_006715238.1:p.Val225Leu
XM_011514833.1:c.388G>T (TFAP2A)	XP_011513135.1:p.Val130Leu
NR_145448.1:n.233C>A (TFAP2A-AS2)
XM_011514833.2:c.388G>T (TFAP2A)	XP_011513135.1:p.Val130Leu
XM_017011232.1:c.784G>T (TFAP2A)	XP_016866721.1:p.Val262Leu
NM_003220.3:c.538G>T (TFAP2A)	NP_003211.1:p.Val180Leu
NM_001032280.3:c.520G>T (TFAP2A)	NP_001027451.1:p.Val174Leu
NM_001042425.2:c.526G>T (TFAP2A)	NP_001035890.1:p.Val176Leu
NM_001372066.1:c.544G>T (TFAP2A) MANE Select	NP_001358995.1:p.Val182Leu
NM_001042425.3:c.526G>T (TFAP2A)	NP_001035890.1:p.Val176Leu