Canonical Allele Identifier: CA3631341
Gene: TFAP2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10409961G>A , CM000668.2:g.10409961G>A GRCh38
NC_000006.11:g.10410194G>A , CM000668.1:g.10410194G>A GRCh37
NC_000006.10:g.10518180G>A NCBI36
NG_016151.1:g.14604C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001372066.1:c.426C>T MANE Select NP_001358995.1:p.Leu142=
ENST00000379613.10:c.426C>T MANE Select ENSP00000368933.5:p.Leu142=
NM_001032280.2:c.402C>T NP_001027451.1:p.Leu134=
NM_001032280.3:c.402C>T NP_001027451.1:p.Leu134=
NM_001042425.1:c.408C>T NP_001035890.1:p.Leu136=
NM_001042425.2:c.408C>T NP_001035890.1:p.Leu136=
NM_001042425.3:c.408C>T NP_001035890.1:p.Leu136=
NM_003220.2:c.420C>T NP_003211.1:p.Leu140=
NM_003220.3:c.420C>T NP_003211.1:p.Leu140=
ENST00000319516.8:c.408C>T ENSP00000316516.4:p.Leu136=
ENST00000379608.7:c.402C>T ENSP00000368928.3:p.Leu134=
ENST00000379608.9:c.402C>T ENSP00000368928.3:p.Leu134=
ENST00000379613.7:c.426C>T ENSP00000368933.3:p.Leu142=
ENST00000462727.1:n.458C>T
ENST00000464323.1:n.512C>T
ENST00000466073.5:c.420C>T ENSP00000417495.1:p.Leu140=
ENST00000473652.1:n.474C>T
ENST00000474952.5:n.852C>T
ENST00000475264.5:c.134C>T
ENST00000478375.5:n.420C>T
ENST00000482890.5:c.420C>T ENSP00000418541.1:p.Leu140=
ENST00000482890.6:c.426C>T ENSP00000418541.2:p.Leu142=
ENST00000488193.5:c.283C>T ENSP00000419823.1:p.Gln95Ter
ENST00000488193.7:c.283C>T ENSP00000419823.3:p.Gln95Ter
ENST00000489805.5:c.259C>T ENSP00000420568.1:p.Gln87Ter
ENST00000490875.5:n.662C>T
ENST00000497266.5:n.391C>T
ENST00000498450.1:c.52-3117C>T ENSP00000419961.1:n.52-3117C>T
ENST00000498450.3:c.52-3117C>T ENSP00000419961.3:n.52-3117C>T
XM_006715175.2:c.555C>T XP_006715238.1:p.Leu185=
XM_011514833.1:c.270C>T XP_011513135.1:p.Leu90=
XM_011514833.2:c.270C>T XP_011513135.1:p.Leu90=
XM_017011232.1:c.666C>T XP_016866721.1:p.Leu222=