Canonical Allele Identifier: CA269576149
Gene: GOLM2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44289220A>G , CM000677.2:g.44289220A>G GRCh38
NC_000015.9:g.44581418A>G , CM000677.1:g.44581418A>G GRCh37
NC_000015.8:g.42368710A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299957.11:c.191A>G MANE Select ENSP00000299957.6:p.Glu64Gly
ENST00000650436.1:c.-314A>G ENSP00000496905.1:n.-314A>G
ENST00000299957.10:c.191A>G ENSP00000299957.6:p.Glu64Gly
ENST00000345795.6:c.191A>G ENSP00000335063.4:p.Glu64Gly
ENST00000429162.2:n.483A>G
ENST00000557945.5:c.191A>G ENSP00000453720.1:p.Glu64Gly
ENST00000558735.1:c.116A>G
ENST00000559222.5:c.-167A>G ENSP00000453703.1:n.-167A>G
NM_138423.3:c.191A>G NP_612432.2:p.Glu64Gly
NM_177974.2:c.191A>G NP_816929.1:p.Glu64Gly
XM_011521170.1:c.191A>G XP_011519472.1:p.Glu64Gly
NR_157849.1:n.502A>G
XM_017021880.2:c.191A>G XP_016877369.1:p.Glu64Gly
NM_138423.4:c.191A>G MANE Select NP_612432.2:p.Glu64Gly
NM_177974.3:c.191A>G NP_816929.1:p.Glu64Gly
NR_157849.2:n.502A>G