Canonical Allele Identifier: CA10623791
Gene: GM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 352249
ClinVar RCV Id: RCV000369671 RCV001709624
dbSNP Id: rs2277028
gnomAD v2: 5-150632676-A-G
gnomAD v3: 5-151253115-A-G
gnomAD v4: 5-151253115-A-G
MyVariant Identifiers: chr5:g.150632676A>G (hg19) chr5:g.151253115A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151253115A>G , CM000667.2:g.151253115A>G GRCh38
NC_000005.9:g.150632676A>G , CM000667.1:g.150632676A>G GRCh37
NC_000005.8:g.150612869A>G NCBI36
NG_009059.1:g.5064A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.3:c.-102A>G ENSP00000349687.3:n.-102A>G
ENST00000523466.5:c.127-6640A>G ENSP00000429100.1:n.127-6640A>G
NM_000405.4:c.-102A>G NP_000396.2:n.-102A>G
NM_001167607.1:c.-102A>G NP_001161079.1:n.-102A>G
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