Canonical Allele Identifier: CA1609976693
Gene: TFAP2A HGNC NCBI

Linked Data

dbSNP Id: rs1027845240
gnomAD v4: 6-10404483-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404483C>T , CM000668.2:g.10404483C>T GRCh38
NC_000006.11:g.10404716C>T , CM000668.1:g.10404716C>T GRCh37
NC_000006.10:g.10512702C>T NCBI36
NG_016151.1:g.20082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.746+25G>A ENSP00000368928.3:n.746+25G>A
ENST00000379613.10:c.770+25G>A MANE Select ENSP00000368933.5:n.770+25G>A
ENST00000482890.6:c.770+25G>A ENSP00000418541.2:n.770+25G>A
ENST00000488193.7:c.*261+25G>A ENSP00000419823.3:n.*261+25G>A
ENST00000498450.3:c.335+25G>A ENSP00000419961.3:n.335+25G>A
ENST00000319516.8:c.752+25G>A ENSP00000316516.4:n.752+25G>A
ENST00000379608.7:c.746+25G>A ENSP00000368928.3:n.746+25G>A
ENST00000379613.7:c.770+25G>A ENSP00000368933.3:n.770+25G>A
ENST00000461628.5:c.87+25G>A
ENST00000466073.5:c.764+25G>A ENSP00000417495.1:n.764+25G>A
ENST00000475264.5:c.478+25G>A
ENST00000478375.5:n.764+25G>A
ENST00000482890.5:c.764+25G>A ENSP00000418541.1:n.764+25G>A
ENST00000488193.5:c.*261+25G>A ENSP00000419823.1:n.*261+25G>A
ENST00000489805.5:c.*261+25G>A ENSP00000420568.1:n.*261+25G>A
ENST00000497266.5:n.735+25G>A
ENST00000498450.1:c.335+25G>A ENSP00000419961.1:n.335+25G>A
NM_001032280.2:c.746+25G>A NP_001027451.1:n.746+25G>A
NM_001042425.1:c.752+25G>A NP_001035890.1:n.752+25G>A
NM_003220.2:c.764+25G>A NP_003211.1:n.764+25G>A
XM_006715175.2:c.899+25G>A XP_006715238.1:n.899+25G>A
XM_011514833.1:c.614+25G>A XP_011513135.1:n.614+25G>A
XM_011514833.2:c.614+25G>A XP_011513135.1:n.614+25G>A
XM_017011232.1:c.1010+25G>A XP_016866721.1:n.1010+25G>A
NM_003220.3:c.764+25G>A NP_003211.1:n.764+25G>A
NM_001032280.3:c.746+25G>A NP_001027451.1:n.746+25G>A
NM_001042425.2:c.752+25G>A NP_001035890.1:n.752+25G>A
NM_001372066.1:c.770+25G>A MANE Select NP_001358995.1:n.770+25G>A
NM_001042425.3:c.752+25G>A NP_001035890.1:n.752+25G>A