Canonical Allele Identifier: CA412434324
Community Standard Title: NM_002063.4(GLRA2):c.887C>T (p.Thr296Met)
Gene: GLRA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.14609162C>T , CM000685.2:g.14609162C>T GRCh38
NC_000023.10:g.14627284C>T , CM000685.1:g.14627284C>T GRCh37
NC_000023.9:g.14537205C>T NCBI36
NG_016459.1:g.84865C>T
NG_016459.2:g.84865C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002063.4:c.887C>T MANE Select NP_002054.1:p.Thr296Met
ENST00000218075.9:c.887C>T MANE Select ENSP00000218075.4:p.Thr296Met
NM_001118885.1:c.887C>T NP_001112357.1:p.Thr296Met
NM_001118885.2:c.887C>T NP_001112357.1:p.Thr296Met
NM_001118886.1:c.887C>T NP_001112358.1:p.Thr296Met
NM_001118886.2:c.887C>T NP_001112358.1:p.Thr296Met
NM_001171942.1:c.620C>T NP_001165413.1:p.Thr207Met
NM_001171942.2:c.620C>T NP_001165413.1:p.Thr207Met
NM_002063.3:c.887C>T NP_002054.1:p.Thr296Met
ENST00000218075.8:c.887C>T ENSP00000218075.4:p.Thr296Met
ENST00000355020.8:c.887C>T ENSP00000347123.4:p.Thr296Met
ENST00000355020.9:c.887C>T ENSP00000347123.4:p.Thr296Met
ENST00000415367.2:n.1138C>T
ENST00000443437.6:c.620C>T ENSP00000387756.2:p.Thr207Met
XM_006724487.2:c.839C>T XP_006724550.1:p.Thr280Met
XM_006724487.3:c.839C>T XP_006724550.1:p.Thr280Met
XM_011545495.1:c.839C>T XP_011543797.1:p.Thr280Met
XM_011545496.1:c.839C>T XP_011543798.1:p.Thr280Met
XM_011545496.2:c.839C>T XP_011543798.1:p.Thr280Met
XM_017029427.1:c.887C>T XP_016884916.1:p.Thr296Met
XM_017029428.2:c.620C>T XP_016884917.1:p.Thr207Met
XM_017029429.2:c.620C>T XP_016884918.1:p.Thr207Met
XM_024452365.1:c.839C>T XP_024308133.1:p.Thr280Met
XM_024452366.1:c.620C>T XP_024308134.1:p.Thr207Met