Canonical Allele Identifier: CA004737
Gene: TFAP2A HGNC NCBI

Linked Data

ClinVar Variation Id: 17938
ClinVar RCV Id: RCV000019531
dbSNP Id: rs121909575
MyVariant Identifiers: chr6:g.10402823C>T (hg19) chr6:g.10402590C>T (hg38)
PubMed: PMID:10767004 PMID:18423521
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10402590C>T , CM000668.2:g.10402590C>T GRCh38
NC_000006.11:g.10402823C>T , CM000668.1:g.10402823C>T GRCh37
NC_000006.10:g.10510809C>T NCBI36
NG_016151.1:g.21975G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379608.9:c.767G>A ENSP00000368928.3:p.Gly256Glu
ENST00000379613.10:c.791G>A MANE Select ENSP00000368933.5:p.Gly264Glu
ENST00000482890.6:c.791G>A ENSP00000418541.2:p.Gly264Glu
ENST00000488193.7:c.*282G>A ENSP00000419823.3:n.*282G>A
ENST00000498450.3:c.356G>A ENSP00000419961.3:p.Gly119Glu
ENST00000319516.8:c.773G>A ENSP00000316516.4:p.Gly258Glu
ENST00000379608.7:c.767G>A ENSP00000368928.3:p.Gly256Glu
ENST00000379613.7:c.791G>A ENSP00000368933.3:p.Gly264Glu
ENST00000461628.5:c.108G>A
ENST00000466073.5:c.785G>A ENSP00000417495.1:p.Gly262Glu
ENST00000475264.5:c.499G>A
ENST00000478375.5:n.785G>A
ENST00000482890.5:c.785G>A ENSP00000418541.1:p.Gly262Glu
ENST00000488193.5:c.*282G>A ENSP00000419823.1:n.*282G>A
ENST00000489805.5:c.*282G>A ENSP00000420568.1:n.*282G>A
ENST00000497266.5:n.756G>A
ENST00000498450.1:c.356G>A ENSP00000419961.1:p.Gly119Glu
NM_001032280.2:c.767G>A NP_001027451.1:p.Gly256Glu
NM_001042425.1:c.773G>A NP_001035890.1:p.Gly258Glu
NM_003220.2:c.785G>A NP_003211.1:p.Gly262Glu
XM_006715175.2:c.920G>A XP_006715238.1:p.Gly307Glu
XM_011514833.1:c.635G>A XP_011513135.1:p.Gly212Glu
XM_011514833.2:c.635G>A XP_011513135.1:p.Gly212Glu
XM_017011232.1:c.1031G>A XP_016866721.1:p.Gly344Glu
NM_003220.3:c.785G>A NP_003211.1:p.Gly262Glu
NM_001032280.3:c.767G>A NP_001027451.1:p.Gly256Glu
NM_001042425.2:c.773G>A NP_001035890.1:p.Gly258Glu
NM_001372066.1:c.791G>A MANE Select NP_001358995.1:p.Gly264Glu
NM_001042425.3:c.773G>A NP_001035890.1:p.Gly258Glu
Search 100 bp 5'
Search 100 bp 3'