Canonical Allele Identifier: CA3518032

Gene: GM2A

Linked Data

• ClinVar Variation Id: 352259
• ClinVar RCV Id: RCV000394134 ; RCV001541167
• dbSNP Id: rs989
• ExAC: 5:150647239 A / G
• gnomAD v2: 5-150647239-A-G
• gnomAD v3: 5-151267678-A-G
• gnomAD v4: 5-151267678-A-G
• MyVariant Identifiers: chr5:g.150647239A>G (hg19) ; chr5:g.151267678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151267678A>G , CM000667.2:g.151267678A>G	GRCh38
NC_000005.9:g.150647239A>G , CM000667.1:g.150647239A>G	GRCh37
NC_000005.8:g.150627432A>G	NCBI36
NG_009059.1:g.19627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.*227A>G MANE Select	ENSP00000349687.3:n.*227A>G
ENST00000357164.3:c.*227A>G	ENSP00000349687.3:n.*227A>G
NM_000405.4:c.*227A>G	NP_000396.2:n.*227A>G
NM_001167607.1:c.*38A>G	NP_001161079.1:n.*38A>G
NM_000405.5:c.*227A>G MANE Select	NP_000396.2:n.*227A>G
NM_001167607.2:c.*38A>G	NP_001161079.1:n.*38A>G
NM_001167607.3:c.*38A>G	NP_001161079.1:n.*38A>G