Canonical Allele Identifier: CA362701237

Gene: TFAP2A TFAP2A-AS2

Linked Data

• ClinVar Variation Id: 1303161
• ClinVar RCV Id: RCV001756660
• dbSNP Id: rs2114014341
• MyVariant Identifiers: chr6:g.10404790A>G (hg19) ; chr6:g.10404557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404557A>G , CM000668.2:g.10404557A>G	GRCh38
NC_000006.11:g.10404790A>G , CM000668.1:g.10404790A>G	GRCh37
NC_000006.10:g.10512776A>G	NCBI36
NG_016151.1:g.20008T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.697T>C (TFAP2A)	ENSP00000368928.3:p.Ser233Pro
ENST00000379613.10:c.721T>C (TFAP2A) MANE Select	ENSP00000368933.5:p.Ser241Pro
ENST00000482890.6:c.721T>C (TFAP2A)	ENSP00000418541.2:p.Ser241Pro
ENST00000488193.7:c.*212T>C (TFAP2A)	ENSP00000419823.3:n.*212T>C
ENST00000498450.3:c.286T>C (TFAP2A)	ENSP00000419961.3:p.Ser96Pro
ENST00000319516.8:c.703T>C (TFAP2A)	ENSP00000316516.4:p.Ser235Pro
ENST00000379608.7:c.697T>C (TFAP2A)	ENSP00000368928.3:p.Ser233Pro
ENST00000379613.7:c.721T>C (TFAP2A)	ENSP00000368933.3:p.Ser241Pro
ENST00000461628.5:c.38T>C (TFAP2A)
ENST00000466073.5:c.715T>C (TFAP2A)	ENSP00000417495.1:p.Ser239Pro
ENST00000475264.5:c.429T>C (TFAP2A)
ENST00000478375.5:n.715T>C (TFAP2A)
ENST00000482890.5:c.715T>C (TFAP2A)	ENSP00000418541.1:p.Ser239Pro
ENST00000488193.5:c.*212T>C (TFAP2A)	ENSP00000419823.1:n.*212T>C
ENST00000489805.5:c.*212T>C (TFAP2A)	ENSP00000420568.1:n.*212T>C
ENST00000497266.5:n.686T>C (TFAP2A)
ENST00000498450.1:c.286T>C (TFAP2A)	ENSP00000419961.1:p.Ser96Pro
NM_001032280.2:c.697T>C (TFAP2A)	NP_001027451.1:p.Ser233Pro
NM_001042425.1:c.703T>C (TFAP2A)	NP_001035890.1:p.Ser235Pro
NM_003220.2:c.715T>C (TFAP2A)	NP_003211.1:p.Ser239Pro
XM_006715175.2:c.850T>C (TFAP2A)	XP_006715238.1:p.Ser284Pro
XM_011514833.1:c.565T>C (TFAP2A)	XP_011513135.1:p.Ser189Pro
NR_145448.1:n.56A>G (TFAP2A-AS2)
XM_011514833.2:c.565T>C (TFAP2A)	XP_011513135.1:p.Ser189Pro
XM_017011232.1:c.961T>C (TFAP2A)	XP_016866721.1:p.Ser321Pro
NM_003220.3:c.715T>C (TFAP2A)	NP_003211.1:p.Ser239Pro
NM_001032280.3:c.697T>C (TFAP2A)	NP_001027451.1:p.Ser233Pro
NM_001042425.2:c.703T>C (TFAP2A)	NP_001035890.1:p.Ser235Pro
NM_001372066.1:c.721T>C (TFAP2A) MANE Select	NP_001358995.1:p.Ser241Pro
NM_001042425.3:c.703T>C (TFAP2A)	NP_001035890.1:p.Ser235Pro