Canonical Allele Identifier: CA362701177

Gene: TFAP2A TFAP2A-AS2

Linked Data

• MyVariant Identifiers: chr6:g.10404763G>T (hg19) ; chr6:g.10404530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404530G>T , CM000668.2:g.10404530G>T	GRCh38
NC_000006.11:g.10404763G>T , CM000668.1:g.10404763G>T	GRCh37
NC_000006.10:g.10512749G>T	NCBI36
NG_016151.1:g.20035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.724C>A (TFAP2A)	ENSP00000368928.3:p.Leu242Met
ENST00000379613.10:c.748C>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Leu250Met
ENST00000482890.6:c.748C>A (TFAP2A)	ENSP00000418541.2:p.Leu250Met
ENST00000488193.7:c.*239C>A (TFAP2A)	ENSP00000419823.3:n.*239C>A
ENST00000498450.3:c.313C>A (TFAP2A)	ENSP00000419961.3:p.Leu105Met
ENST00000319516.8:c.730C>A (TFAP2A)	ENSP00000316516.4:p.Leu244Met
ENST00000379608.7:c.724C>A (TFAP2A)	ENSP00000368928.3:p.Leu242Met
ENST00000379613.7:c.748C>A (TFAP2A)	ENSP00000368933.3:p.Leu250Met
ENST00000461628.5:c.65C>A (TFAP2A)
ENST00000466073.5:c.742C>A (TFAP2A)	ENSP00000417495.1:p.Leu248Met
ENST00000475264.5:c.456C>A (TFAP2A)
ENST00000478375.5:n.742C>A (TFAP2A)
ENST00000482890.5:c.742C>A (TFAP2A)	ENSP00000418541.1:p.Leu248Met
ENST00000488193.5:c.*239C>A (TFAP2A)	ENSP00000419823.1:n.*239C>A
ENST00000489805.5:c.*239C>A (TFAP2A)	ENSP00000420568.1:n.*239C>A
ENST00000497266.5:n.713C>A (TFAP2A)
ENST00000498450.1:c.313C>A (TFAP2A)	ENSP00000419961.1:p.Leu105Met
NM_001032280.2:c.724C>A (TFAP2A)	NP_001027451.1:p.Leu242Met
NM_001042425.1:c.730C>A (TFAP2A)	NP_001035890.1:p.Leu244Met
NM_003220.2:c.742C>A (TFAP2A)	NP_003211.1:p.Leu248Met
XM_006715175.2:c.877C>A (TFAP2A)	XP_006715238.1:p.Leu293Met
XM_011514833.1:c.592C>A (TFAP2A)	XP_011513135.1:p.Leu198Met
NR_145448.1:n.29G>T (TFAP2A-AS2)
XM_011514833.2:c.592C>A (TFAP2A)	XP_011513135.1:p.Leu198Met
XM_017011232.1:c.988C>A (TFAP2A)	XP_016866721.1:p.Leu330Met
NM_003220.3:c.742C>A (TFAP2A)	NP_003211.1:p.Leu248Met
NM_001032280.3:c.724C>A (TFAP2A)	NP_001027451.1:p.Leu242Met
NM_001042425.2:c.730C>A (TFAP2A)	NP_001035890.1:p.Leu244Met
NM_001372066.1:c.748C>A (TFAP2A) MANE Select	NP_001358995.1:p.Leu250Met
NM_001042425.3:c.730C>A (TFAP2A)	NP_001035890.1:p.Leu244Met