Canonical Allele Identifier: CA362701224

Gene: TFAP2A TFAP2A-AS2

Linked Data

• dbSNP Id: rs1453058626
• gnomAD v2: 6-10404786-G-T
• gnomAD v4: 6-10404553-G-T
• MyVariant Identifiers: chr6:g.10404786G>T (hg19) ; chr6:g.10404553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404553G>T , CM000668.2:g.10404553G>T	GRCh38
NC_000006.11:g.10404786G>T , CM000668.1:g.10404786G>T	GRCh37
NC_000006.10:g.10512772G>T	NCBI36
NG_016151.1:g.20012C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.701C>A (TFAP2A)	ENSP00000368928.3:p.Pro234Gln
ENST00000379613.10:c.725C>A (TFAP2A) MANE Select	ENSP00000368933.5:p.Pro242Gln
ENST00000482890.6:c.725C>A (TFAP2A)	ENSP00000418541.2:p.Pro242Gln
ENST00000488193.7:c.*216C>A (TFAP2A)	ENSP00000419823.3:n.*216C>A
ENST00000498450.3:c.290C>A (TFAP2A)	ENSP00000419961.3:p.Pro97Gln
ENST00000319516.8:c.707C>A (TFAP2A)	ENSP00000316516.4:p.Pro236Gln
ENST00000379608.7:c.701C>A (TFAP2A)	ENSP00000368928.3:p.Pro234Gln
ENST00000379613.7:c.725C>A (TFAP2A)	ENSP00000368933.3:p.Pro242Gln
ENST00000461628.5:c.42C>A (TFAP2A)
ENST00000466073.5:c.719C>A (TFAP2A)	ENSP00000417495.1:p.Pro240Gln
ENST00000475264.5:c.433C>A (TFAP2A)
ENST00000478375.5:n.719C>A (TFAP2A)
ENST00000482890.5:c.719C>A (TFAP2A)	ENSP00000418541.1:p.Pro240Gln
ENST00000488193.5:c.*216C>A (TFAP2A)	ENSP00000419823.1:n.*216C>A
ENST00000489805.5:c.*216C>A (TFAP2A)	ENSP00000420568.1:n.*216C>A
ENST00000497266.5:n.690C>A (TFAP2A)
ENST00000498450.1:c.290C>A (TFAP2A)	ENSP00000419961.1:p.Pro97Gln
NM_001032280.2:c.701C>A (TFAP2A)	NP_001027451.1:p.Pro234Gln
NM_001042425.1:c.707C>A (TFAP2A)	NP_001035890.1:p.Pro236Gln
NM_003220.2:c.719C>A (TFAP2A)	NP_003211.1:p.Pro240Gln
XM_006715175.2:c.854C>A (TFAP2A)	XP_006715238.1:p.Pro285Gln
XM_011514833.1:c.569C>A (TFAP2A)	XP_011513135.1:p.Pro190Gln
NR_145448.1:n.52G>T (TFAP2A-AS2)
XM_011514833.2:c.569C>A (TFAP2A)	XP_011513135.1:p.Pro190Gln
XM_017011232.1:c.965C>A (TFAP2A)	XP_016866721.1:p.Pro322Gln
NM_003220.3:c.719C>A (TFAP2A)	NP_003211.1:p.Pro240Gln
NM_001032280.3:c.701C>A (TFAP2A)	NP_001027451.1:p.Pro234Gln
NM_001042425.2:c.707C>A (TFAP2A)	NP_001035890.1:p.Pro236Gln
NM_001372066.1:c.725C>A (TFAP2A) MANE Select	NP_001358995.1:p.Pro242Gln
NM_001042425.3:c.707C>A (TFAP2A)	NP_001035890.1:p.Pro236Gln