Canonical Allele Identifier: CA362701320

Gene: TFAP2A TFAP2A-AS2

Linked Data

• ClinVar Variation Id: 2095335
• ClinVar RCV Id: RCV003025724
• dbSNP Id: rs1757611000
• gnomAD v3: 6-10404578-C-T
• gnomAD v4: 6-10404578-C-T
• MyVariant Identifiers: chr6:g.10404811C>T (hg19) ; chr6:g.10404578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404578C>T , CM000668.2:g.10404578C>T	GRCh38
NC_000006.11:g.10404811C>T , CM000668.1:g.10404811C>T	GRCh37
NC_000006.10:g.10512797C>T	NCBI36
NG_016151.1:g.19987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.676G>A (TFAP2A)	ENSP00000368928.3:p.Ala226Thr
ENST00000379613.10:c.700G>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Ala234Thr
ENST00000482890.6:c.700G>A (TFAP2A)	ENSP00000418541.2:p.Ala234Thr
ENST00000488193.7:c.*191G>A (TFAP2A)	ENSP00000419823.3:n.*191G>A
ENST00000498450.3:c.265G>A (TFAP2A)	ENSP00000419961.3:p.Ala89Thr
ENST00000319516.8:c.682G>A (TFAP2A)	ENSP00000316516.4:p.Ala228Thr
ENST00000379608.7:c.676G>A (TFAP2A)	ENSP00000368928.3:p.Ala226Thr
ENST00000379613.7:c.700G>A (TFAP2A)	ENSP00000368933.3:p.Ala234Thr
ENST00000461628.5:c.17G>A (TFAP2A)
ENST00000466073.5:c.694G>A (TFAP2A)	ENSP00000417495.1:p.Ala232Thr
ENST00000475264.5:c.408G>A (TFAP2A)
ENST00000478375.5:n.694G>A (TFAP2A)
ENST00000482890.5:c.694G>A (TFAP2A)	ENSP00000418541.1:p.Ala232Thr
ENST00000488193.5:c.*191G>A (TFAP2A)	ENSP00000419823.1:n.*191G>A
ENST00000489805.5:c.*191G>A (TFAP2A)	ENSP00000420568.1:n.*191G>A
ENST00000497266.5:n.665G>A (TFAP2A)
ENST00000498450.1:c.265G>A (TFAP2A)	ENSP00000419961.1:p.Ala89Thr
NM_001032280.2:c.676G>A (TFAP2A)	NP_001027451.1:p.Ala226Thr
NM_001042425.1:c.682G>A (TFAP2A)	NP_001035890.1:p.Ala228Thr
NM_003220.2:c.694G>A (TFAP2A)	NP_003211.1:p.Ala232Thr
XM_006715175.2:c.829G>A (TFAP2A)	XP_006715238.1:p.Ala277Thr
XM_011514833.1:c.544G>A (TFAP2A)	XP_011513135.1:p.Ala182Thr
NR_145448.1:n.77C>T (TFAP2A-AS2)
XM_011514833.2:c.544G>A (TFAP2A)	XP_011513135.1:p.Ala182Thr
XM_017011232.1:c.940G>A (TFAP2A)	XP_016866721.1:p.Ala314Thr
NM_003220.3:c.694G>A (TFAP2A)	NP_003211.1:p.Ala232Thr
NM_001032280.3:c.676G>A (TFAP2A)	NP_001027451.1:p.Ala226Thr
NM_001042425.2:c.682G>A (TFAP2A)	NP_001035890.1:p.Ala228Thr
NM_001372066.1:c.700G>A (TFAP2A) MANE Select	NP_001358995.1:p.Ala234Thr
NM_001042425.3:c.682G>A (TFAP2A)	NP_001035890.1:p.Ala228Thr