Canonical Allele Identifier: CA396899979
Community Standard Title: NM_002661.5(PLCG2):c.1533G>T (p.Gln511His)
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81907750G>T , CM000678.2:g.81907750G>T GRCh38
NC_000016.9:g.81941355G>T , CM000678.1:g.81941355G>T GRCh37
NC_000016.8:g.80498856G>T NCBI36
NG_032019.2:g.173654G>T , LRG_376:g.173654G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.1533G>T MANE Select NP_002652.2:p.Gln511His
ENST00000564138.6:c.1533G>T MANE Select ENSP00000482457.1:p.Gln511His
NM_002661.4:c.1533G>T NP_002652.2:p.Gln511His
ENST00000359376.7:c.1533G>T ENSP00000352336.4:p.Gln511His
ENST00000564138.5:c.1533G>T ENSP00000482457.1:p.Gln511His
ENST00000567980.5:n.1777G>T
ENST00000570198.2:n.651G>T
ENST00000697562.1:c.*393G>T ENSP00000513338.1:n.*393G>T
ENST00000697563.1:c.*1379G>T ENSP00000513339.1:n.*1379G>T
ENST00000697564.1:c.1416G>T ENSP00000513340.1:p.Gln472His
ENST00000697581.1:c.*1527G>T ENSP00000513346.1:n.*1527G>T
ENST00000697582.1:c.1533G>T ENSP00000513347.1:p.Gln511His
ENST00000697583.1:c.1332G>T ENSP00000513349.1:p.Gln444His
ENST00000697584.1:c.1332G>T ENSP00000513350.1:p.Gln444His
ENST00000697585.1:c.1332G>T ENSP00000513351.1:p.Gln444His
ENST00000697586.1:c.1332G>T ENSP00000513352.1:p.Gln444His
ENST00000697587.1:c.1332G>T ENSP00000513353.1:p.Gln444His
XM_011523108.1:c.1647G>T XP_011521410.1:p.Gln549His