Canonical Allele Identifier: CA448717611

Gene: TFAP2A TFAP2A-AS2

Linked Data

• dbSNP Id: rs975728119
• gnomAD v3: 6-10404576-C-A
• gnomAD v4: 6-10404576-C-A
• MyVariant Identifiers: chr6:g.10404809C>A (hg19) ; chr6:g.10404576C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404576C>A , CM000668.2:g.10404576C>A	GRCh38
NC_000006.11:g.10404809C>A , CM000668.1:g.10404809C>A	GRCh37
NC_000006.10:g.10512795C>A	NCBI36
NG_016151.1:g.19989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.678G>T (TFAP2A)	ENSP00000368928.3:p.Ala226=
ENST00000379613.10:c.702G>T (TFAP2A) MANE Select	ENSP00000368933.5:p.Ala234=
ENST00000482890.6:c.702G>T (TFAP2A)	ENSP00000418541.2:p.Ala234=
ENST00000488193.7:c.*193G>T (TFAP2A)	ENSP00000419823.3:n.*193G>T
ENST00000498450.3:c.267G>T (TFAP2A)	ENSP00000419961.3:p.Ala89=
ENST00000319516.8:c.684G>T (TFAP2A)	ENSP00000316516.4:p.Ala228=
ENST00000379608.7:c.678G>T (TFAP2A)	ENSP00000368928.3:p.Ala226=
ENST00000379613.7:c.702G>T (TFAP2A)	ENSP00000368933.3:p.Ala234=
ENST00000461628.5:c.19G>T (TFAP2A)
ENST00000466073.5:c.696G>T (TFAP2A)	ENSP00000417495.1:p.Ala232=
ENST00000475264.5:c.410G>T (TFAP2A)
ENST00000478375.5:n.696G>T (TFAP2A)
ENST00000482890.5:c.696G>T (TFAP2A)	ENSP00000418541.1:p.Ala232=
ENST00000488193.5:c.*193G>T (TFAP2A)	ENSP00000419823.1:n.*193G>T
ENST00000489805.5:c.*193G>T (TFAP2A)	ENSP00000420568.1:n.*193G>T
ENST00000497266.5:n.667G>T (TFAP2A)
ENST00000498450.1:c.267G>T (TFAP2A)	ENSP00000419961.1:p.Ala89=
NM_001032280.2:c.678G>T (TFAP2A)	NP_001027451.1:p.Ala226=
NM_001042425.1:c.684G>T (TFAP2A)	NP_001035890.1:p.Ala228=
NM_003220.2:c.696G>T (TFAP2A)	NP_003211.1:p.Ala232=
XM_006715175.2:c.831G>T (TFAP2A)	XP_006715238.1:p.Ala277=
XM_011514833.1:c.546G>T (TFAP2A)	XP_011513135.1:p.Ala182=
NR_145448.1:n.75C>A (TFAP2A-AS2)
XM_011514833.2:c.546G>T (TFAP2A)	XP_011513135.1:p.Ala182=
XM_017011232.1:c.942G>T (TFAP2A)	XP_016866721.1:p.Ala314=
NM_003220.3:c.696G>T (TFAP2A)	NP_003211.1:p.Ala232=
NM_001032280.3:c.678G>T (TFAP2A)	NP_001027451.1:p.Ala226=
NM_001042425.2:c.684G>T (TFAP2A)	NP_001035890.1:p.Ala228=
NM_001372066.1:c.702G>T (TFAP2A) MANE Select	NP_001358995.1:p.Ala234=
NM_001042425.3:c.684G>T (TFAP2A)	NP_001035890.1:p.Ala228=