Canonical Allele Identifier: CA2677252895
Gene: TFAP2A HGNC NCBI

Linked Data

gnomAD v4: 6-10404481-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10404481G>A , CM000668.2:g.10404481G>A GRCh38
NC_000006.11:g.10404714G>A , CM000668.1:g.10404714G>A GRCh37
NC_000006.10:g.10512700G>A NCBI36
NG_016151.1:g.20084C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379608.9:c.746+27C>T ENSP00000368928.3:n.746+27C>T
ENST00000379613.10:c.770+27C>T MANE Select ENSP00000368933.5:n.770+27C>T
ENST00000482890.6:c.770+27C>T ENSP00000418541.2:n.770+27C>T
ENST00000488193.7:c.*261+27C>T ENSP00000419823.3:n.*261+27C>T
ENST00000498450.3:c.335+27C>T ENSP00000419961.3:n.335+27C>T
ENST00000319516.8:c.752+27C>T ENSP00000316516.4:n.752+27C>T
ENST00000379608.7:c.746+27C>T ENSP00000368928.3:n.746+27C>T
ENST00000379613.7:c.770+27C>T ENSP00000368933.3:n.770+27C>T
ENST00000461628.5:c.87+27C>T
ENST00000466073.5:c.764+27C>T ENSP00000417495.1:n.764+27C>T
ENST00000475264.5:c.478+27C>T
ENST00000478375.5:n.764+27C>T
ENST00000482890.5:c.764+27C>T ENSP00000418541.1:n.764+27C>T
ENST00000488193.5:c.*261+27C>T ENSP00000419823.1:n.*261+27C>T
ENST00000489805.5:c.*261+27C>T ENSP00000420568.1:n.*261+27C>T
ENST00000497266.5:n.735+27C>T
ENST00000498450.1:c.335+27C>T ENSP00000419961.1:n.335+27C>T
NM_001032280.2:c.746+27C>T NP_001027451.1:n.746+27C>T
NM_001042425.1:c.752+27C>T NP_001035890.1:n.752+27C>T
NM_003220.2:c.764+27C>T NP_003211.1:n.764+27C>T
XM_006715175.2:c.899+27C>T XP_006715238.1:n.899+27C>T
XM_011514833.1:c.614+27C>T XP_011513135.1:n.614+27C>T
XM_011514833.2:c.614+27C>T XP_011513135.1:n.614+27C>T
XM_017011232.1:c.1010+27C>T XP_016866721.1:n.1010+27C>T
NM_003220.3:c.764+27C>T NP_003211.1:n.764+27C>T
NM_001032280.3:c.746+27C>T NP_001027451.1:n.746+27C>T
NM_001042425.2:c.752+27C>T NP_001035890.1:n.752+27C>T
NM_001372066.1:c.770+27C>T MANE Select NP_001358995.1:n.770+27C>T
NM_001042425.3:c.752+27C>T NP_001035890.1:n.752+27C>T