Canonical Allele Identifier: CA3631270

Gene: TFAP2A TFAP2A-AS2

Linked Data

• ClinVar Variation Id: 2143533
• ClinVar RCV Id: RCV003062733
• dbSNP Id: rs749849069
• ExAC: 6:10404820 C / T
• gnomAD v2: 6-10404820-C-T
• gnomAD v3: 6-10404587-C-T
• gnomAD v4: 6-10404587-C-T
• MyVariant Identifiers: chr6:g.10404820C>T (hg19) ; chr6:g.10404587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404587C>T , CM000668.2:g.10404587C>T	GRCh38
NC_000006.11:g.10404820C>T , CM000668.1:g.10404820C>T	GRCh37
NC_000006.10:g.10512806C>T	NCBI36
NG_016151.1:g.19978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.667G>A (TFAP2A)	ENSP00000368928.3:p.Val223Ile
ENST00000379613.10:c.691G>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Val231Ile
ENST00000482890.6:c.691G>A (TFAP2A)	ENSP00000418541.2:p.Val231Ile
ENST00000488193.7:c.*182G>A (TFAP2A)	ENSP00000419823.3:n.*182G>A
ENST00000498450.3:c.256G>A (TFAP2A)	ENSP00000419961.3:p.Val86Ile
ENST00000319516.8:c.673G>A (TFAP2A)	ENSP00000316516.4:p.Val225Ile
ENST00000379608.7:c.667G>A (TFAP2A)	ENSP00000368928.3:p.Val223Ile
ENST00000379613.7:c.691G>A (TFAP2A)	ENSP00000368933.3:p.Val231Ile
ENST00000461628.5:c.8G>A (TFAP2A)
ENST00000466073.5:c.685G>A (TFAP2A)	ENSP00000417495.1:p.Val229Ile
ENST00000475264.5:c.399G>A (TFAP2A)
ENST00000478375.5:n.685G>A (TFAP2A)
ENST00000482890.5:c.685G>A (TFAP2A)	ENSP00000418541.1:p.Val229Ile
ENST00000488193.5:c.*182G>A (TFAP2A)	ENSP00000419823.1:n.*182G>A
ENST00000489805.5:c.*182G>A (TFAP2A)	ENSP00000420568.1:n.*182G>A
ENST00000497266.5:n.656G>A (TFAP2A)
ENST00000498450.1:c.256G>A (TFAP2A)	ENSP00000419961.1:p.Val86Ile
NM_001032280.2:c.667G>A (TFAP2A)	NP_001027451.1:p.Val223Ile
NM_001042425.1:c.673G>A (TFAP2A)	NP_001035890.1:p.Val225Ile
NM_003220.2:c.685G>A (TFAP2A)	NP_003211.1:p.Val229Ile
XM_006715175.2:c.820G>A (TFAP2A)	XP_006715238.1:p.Val274Ile
XM_011514833.1:c.535G>A (TFAP2A)	XP_011513135.1:p.Val179Ile
NR_145448.1:n.86C>T (TFAP2A-AS2)
XM_011514833.2:c.535G>A (TFAP2A)	XP_011513135.1:p.Val179Ile
XM_017011232.1:c.931G>A (TFAP2A)	XP_016866721.1:p.Val311Ile
NM_003220.3:c.685G>A (TFAP2A)	NP_003211.1:p.Val229Ile
NM_001032280.3:c.667G>A (TFAP2A)	NP_001027451.1:p.Val223Ile
NM_001042425.2:c.673G>A (TFAP2A)	NP_001035890.1:p.Val225Ile
NM_001372066.1:c.691G>A (TFAP2A) MANE Select	NP_001358995.1:p.Val231Ile
NM_001042425.3:c.673G>A (TFAP2A)	NP_001035890.1:p.Val225Ile