Canonical Allele Identifier: CA2839922232

Gene: GM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259877_151259878insG , CM000667.2:g.151259877_151259878insG	GRCh38
NC_000005.9:g.150639438_150639439insG , CM000667.1:g.150639438_150639439insG	GRCh37
NC_000005.8:g.150619631_150619632insG	NCBI36
NG_009059.1:g.11826_11827insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.204_205insG MANE Select	ENSP00000349687.3:p.Met69AspfsTer?
ENST00000357164.3:c.204_205insG	ENSP00000349687.3:p.Met69AspfsTer?
ENST00000523004.1:c.79_80insG
ENST00000523466.5:c.249_250insG	ENSP00000429100.1:p.Met84AspfsTer?
NM_000405.4:c.204_205insG	NP_000396.2:p.Met69AspfsTer?
NM_001167607.1:c.204_205insG	NP_001161079.1:p.Met69AspfsTer?
NM_000405.5:c.204_205insG MANE Select	NP_000396.2:p.Met69AspfsTer?
NM_001167607.2:c.204_205insG	NP_001161079.1:p.Met69AspfsTer?
NM_001167607.3:c.204_205insG	NP_001161079.1:p.Met69AspfsTer?