Canonical Allele Identifier: CA448717764

Gene: TFAP2A TFAP2A-AS2

Linked Data

• dbSNP Id: rs1272630405
• gnomAD v2: 6-10404890-C-T
• gnomAD v4: 6-10404657-C-T
• COSMIC: COSM3154003 ; COSM3154004 ; COSM3154005
• MyVariant Identifiers: chr6:g.10404890C>T (hg19) ; chr6:g.10404657C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404657C>T , CM000668.2:g.10404657C>T	GRCh38
NC_000006.11:g.10404890C>T , CM000668.1:g.10404890C>T	GRCh37
NC_000006.10:g.10512876C>T	NCBI36
NG_016151.1:g.19908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.597G>A (TFAP2A)	ENSP00000368928.3:p.Val199=
ENST00000379613.10:c.621G>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Val207=
ENST00000482890.6:c.621G>A (TFAP2A)	ENSP00000418541.2:p.Val207=
ENST00000488193.7:c.*112G>A (TFAP2A)	ENSP00000419823.3:n.*112G>A
ENST00000498450.3:c.186G>A (TFAP2A)	ENSP00000419961.3:p.Val62=
ENST00000319516.8:c.603G>A (TFAP2A)	ENSP00000316516.4:p.Val201=
ENST00000379608.7:c.597G>A (TFAP2A)	ENSP00000368928.3:p.Val199=
ENST00000379613.7:c.621G>A (TFAP2A)	ENSP00000368933.3:p.Val207=
ENST00000466073.5:c.615G>A (TFAP2A)	ENSP00000417495.1:p.Val205=
ENST00000475264.5:c.329G>A (TFAP2A)
ENST00000478375.5:n.615G>A (TFAP2A)
ENST00000482890.5:c.615G>A (TFAP2A)	ENSP00000418541.1:p.Val205=
ENST00000488193.5:c.*112G>A (TFAP2A)	ENSP00000419823.1:n.*112G>A
ENST00000489805.5:c.*112G>A (TFAP2A)	ENSP00000420568.1:n.*112G>A
ENST00000490875.5:n.857G>A (TFAP2A)
ENST00000497266.5:n.586G>A (TFAP2A)
ENST00000498450.1:c.186G>A (TFAP2A)	ENSP00000419961.1:p.Val62=
NM_001032280.2:c.597G>A (TFAP2A)	NP_001027451.1:p.Val199=
NM_001042425.1:c.603G>A (TFAP2A)	NP_001035890.1:p.Val201=
NM_003220.2:c.615G>A (TFAP2A)	NP_003211.1:p.Val205=
XM_006715175.2:c.750G>A (TFAP2A)	XP_006715238.1:p.Val250=
XM_011514833.1:c.465G>A (TFAP2A)	XP_011513135.1:p.Val155=
NR_145448.1:n.156C>T (TFAP2A-AS2)
XM_011514833.2:c.465G>A (TFAP2A)	XP_011513135.1:p.Val155=
XM_017011232.1:c.861G>A (TFAP2A)	XP_016866721.1:p.Val287=
NM_003220.3:c.615G>A (TFAP2A)	NP_003211.1:p.Val205=
NM_001032280.3:c.597G>A (TFAP2A)	NP_001027451.1:p.Val199=
NM_001042425.2:c.603G>A (TFAP2A)	NP_001035890.1:p.Val201=
NM_001372066.1:c.621G>A (TFAP2A) MANE Select	NP_001358995.1:p.Val207=
NM_001042425.3:c.603G>A (TFAP2A)	NP_001035890.1:p.Val201=