Canonical Allele Identifier: CA362701908

Gene: TFAP2A TFAP2A-AS2

Linked Data

• MyVariant Identifiers: chr6:g.10404953C>A (hg19) ; chr6:g.10404720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404720C>A , CM000668.2:g.10404720C>A	GRCh38
NC_000006.11:g.10404953C>A , CM000668.1:g.10404953C>A	GRCh37
NC_000006.10:g.10512939C>A	NCBI36
NG_016151.1:g.19845G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.534G>T (TFAP2A)	ENSP00000368928.3:p.Lys178Asn
ENST00000379613.10:c.558G>T (TFAP2A) MANE Select	ENSP00000368933.5:p.Lys186Asn
ENST00000482890.6:c.558G>T (TFAP2A)	ENSP00000418541.2:p.Lys186Asn
ENST00000488193.7:c.*49G>T (TFAP2A)	ENSP00000419823.3:n.*49G>T
ENST00000498450.3:c.123G>T (TFAP2A)	ENSP00000419961.3:p.Lys41Asn
ENST00000319516.8:c.540G>T (TFAP2A)	ENSP00000316516.4:p.Lys180Asn
ENST00000379608.7:c.534G>T (TFAP2A)	ENSP00000368928.3:p.Lys178Asn
ENST00000379613.7:c.558G>T (TFAP2A)	ENSP00000368933.3:p.Lys186Asn
ENST00000466073.5:c.552G>T (TFAP2A)	ENSP00000417495.1:p.Lys184Asn
ENST00000473652.1:n.606G>T (TFAP2A)
ENST00000475264.5:c.266G>T (TFAP2A)
ENST00000478375.5:n.552G>T (TFAP2A)
ENST00000482890.5:c.552G>T (TFAP2A)	ENSP00000418541.1:p.Lys184Asn
ENST00000488193.5:c.*49G>T (TFAP2A)	ENSP00000419823.1:n.*49G>T
ENST00000489805.5:c.*49G>T (TFAP2A)	ENSP00000420568.1:n.*49G>T
ENST00000490875.5:n.794G>T (TFAP2A)
ENST00000497266.5:n.523G>T (TFAP2A)
ENST00000498450.1:c.123G>T (TFAP2A)	ENSP00000419961.1:p.Lys41Asn
NM_001032280.2:c.534G>T (TFAP2A)	NP_001027451.1:p.Lys178Asn
NM_001042425.1:c.540G>T (TFAP2A)	NP_001035890.1:p.Lys180Asn
NM_003220.2:c.552G>T (TFAP2A)	NP_003211.1:p.Lys184Asn
XM_006715175.2:c.687G>T (TFAP2A)	XP_006715238.1:p.Lys229Asn
XM_011514833.1:c.402G>T (TFAP2A)	XP_011513135.1:p.Lys134Asn
NR_145448.1:n.219C>A (TFAP2A-AS2)
XM_011514833.2:c.402G>T (TFAP2A)	XP_011513135.1:p.Lys134Asn
XM_017011232.1:c.798G>T (TFAP2A)	XP_016866721.1:p.Lys266Asn
NM_003220.3:c.552G>T (TFAP2A)	NP_003211.1:p.Lys184Asn
NM_001032280.3:c.534G>T (TFAP2A)	NP_001027451.1:p.Lys178Asn
NM_001042425.2:c.540G>T (TFAP2A)	NP_001035890.1:p.Lys180Asn
NM_001372066.1:c.558G>T (TFAP2A) MANE Select	NP_001358995.1:p.Lys186Asn
NM_001042425.3:c.540G>T (TFAP2A)	NP_001035890.1:p.Lys180Asn