Canonical Allele Identifier: CA2573131734

Gene: GM2A

Linked Data

• ClinVar Variation Id: 1699419
• ClinVar RCV Id: RCV002273276
• dbSNP Id: rs2114032531

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259882del , CM000667.2:g.151259882del	GRCh38
NC_000005.9:g.150639443del , CM000667.1:g.150639443del	GRCh37
NC_000005.8:g.150619636del	NCBI36
NG_009059.1:g.11831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.209del MANE Select	ENSP00000349687.3:p.Gly70AlafsTer7
ENST00000357164.3:c.209del	ENSP00000349687.3:p.Gly70AlafsTer7
ENST00000523004.1:c.84del
ENST00000523466.5:c.254del	ENSP00000429100.1:p.Gly85AlafsTer7
NM_000405.4:c.209del	NP_000396.2:p.Gly70AlafsTer7
NM_001167607.1:c.209del	NP_001161079.1:p.Gly70AlafsTer7
NM_000405.5:c.209del MANE Select	NP_000396.2:p.Gly70AlafsTer7
NM_001167607.2:c.209del	NP_001161079.1:p.Gly70AlafsTer7
NM_001167607.3:c.209del	NP_001161079.1:p.Gly70AlafsTer7