Canonical Allele Identifier: CA2580073924

Gene: GM2A

Linked Data

• ClinVar Variation Id: 2201263
• ClinVar RCV Id: RCV002629568

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259878_151259879delinsGC , CM000667.2:g.151259878_151259879delinsGC	GRCh38
NC_000005.9:g.150639439_150639440delinsGC , CM000667.1:g.150639439_150639440delinsGC	GRCh37
NC_000005.8:g.150619632_150619633delinsGC	NCBI36
NG_009059.1:g.11827_11828delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.205_206delinsGC MANE Select	ENSP00000349687.3:p.Met69Ala
ENST00000357164.3:c.205_206delinsGC	ENSP00000349687.3:p.Met69Ala
ENST00000523004.1:c.80_81delinsGC
ENST00000523466.5:c.250_251delinsGC	ENSP00000429100.1:p.Met84Ala
NM_000405.4:c.205_206delinsGC	NP_000396.2:p.Met69Ala
NM_001167607.1:c.205_206delinsGC	NP_001161079.1:p.Met69Ala
NM_000405.5:c.205_206delinsGC MANE Select	NP_000396.2:p.Met69Ala
NM_001167607.2:c.205_206delinsGC	NP_001161079.1:p.Met69Ala
NM_001167607.3:c.205_206delinsGC	NP_001161079.1:p.Met69Ala