Canonical Allele Identifier: CA3631291

Gene: TFAP2A TFAP2A-AS2

Linked Data

• dbSNP Id: rs201296512
• ExAC: 6:10404949 T / C
• gnomAD v2: 6-10404949-T-C
• gnomAD v3: 6-10404716-T-C
• gnomAD v4: 6-10404716-T-C
• MyVariant Identifiers: chr6:g.10404949T>C (hg19) ; chr6:g.10404716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404716T>C , CM000668.2:g.10404716T>C	GRCh38
NC_000006.11:g.10404949T>C , CM000668.1:g.10404949T>C	GRCh37
NC_000006.10:g.10512935T>C	NCBI36
NG_016151.1:g.19849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.538A>G (TFAP2A)	ENSP00000368928.3:p.Asn180Asp
ENST00000379613.10:c.562A>G (TFAP2A) MANE Select	ENSP00000368933.5:p.Asn188Asp
ENST00000482890.6:c.562A>G (TFAP2A)	ENSP00000418541.2:p.Asn188Asp
ENST00000488193.7:c.*53A>G (TFAP2A)	ENSP00000419823.3:n.*53A>G
ENST00000498450.3:c.127A>G (TFAP2A)	ENSP00000419961.3:p.Asn43Asp
ENST00000319516.8:c.544A>G (TFAP2A)	ENSP00000316516.4:p.Asn182Asp
ENST00000379608.7:c.538A>G (TFAP2A)	ENSP00000368928.3:p.Asn180Asp
ENST00000379613.7:c.562A>G (TFAP2A)	ENSP00000368933.3:p.Asn188Asp
ENST00000466073.5:c.556A>G (TFAP2A)	ENSP00000417495.1:p.Asn186Asp
ENST00000473652.1:n.610A>G (TFAP2A)
ENST00000475264.5:c.270A>G (TFAP2A)
ENST00000478375.5:n.556A>G (TFAP2A)
ENST00000482890.5:c.556A>G (TFAP2A)	ENSP00000418541.1:p.Asn186Asp
ENST00000488193.5:c.*53A>G (TFAP2A)	ENSP00000419823.1:n.*53A>G
ENST00000489805.5:c.*53A>G (TFAP2A)	ENSP00000420568.1:n.*53A>G
ENST00000490875.5:n.798A>G (TFAP2A)
ENST00000497266.5:n.527A>G (TFAP2A)
ENST00000498450.1:c.127A>G (TFAP2A)	ENSP00000419961.1:p.Asn43Asp
NM_001032280.2:c.538A>G (TFAP2A)	NP_001027451.1:p.Asn180Asp
NM_001042425.1:c.544A>G (TFAP2A)	NP_001035890.1:p.Asn182Asp
NM_003220.2:c.556A>G (TFAP2A)	NP_003211.1:p.Asn186Asp
XM_006715175.2:c.691A>G (TFAP2A)	XP_006715238.1:p.Asn231Asp
XM_011514833.1:c.406A>G (TFAP2A)	XP_011513135.1:p.Asn136Asp
NR_145448.1:n.215T>C (TFAP2A-AS2)
XM_011514833.2:c.406A>G (TFAP2A)	XP_011513135.1:p.Asn136Asp
XM_017011232.1:c.802A>G (TFAP2A)	XP_016866721.1:p.Asn268Asp
NM_003220.3:c.556A>G (TFAP2A)	NP_003211.1:p.Asn186Asp
NM_001032280.3:c.538A>G (TFAP2A)	NP_001027451.1:p.Asn180Asp
NM_001042425.2:c.544A>G (TFAP2A)	NP_001035890.1:p.Asn182Asp
NM_001372066.1:c.562A>G (TFAP2A) MANE Select	NP_001358995.1:p.Asn188Asp
NM_001042425.3:c.544A>G (TFAP2A)	NP_001035890.1:p.Asn182Asp