Canonical Allele Identifier: CA805653976
Gene: GM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2695256
ClinVar RCV Id: RCV003495443
dbSNP Id: rs766738446
gnomAD v3: 5-151259925-G-A
gnomAD v4: 5-151259925-G-A
MyVariant Identifiers: chr5:g.150639486G>A (hg19) chr5:g.151259925G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151259925G>A , CM000667.2:g.151259925G>A GRCh38
NC_000005.9:g.150639486G>A , CM000667.1:g.150639486G>A GRCh37
NC_000005.8:g.150619679G>A NCBI36
NG_009059.1:g.11874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.243+9G>A MANE Select ENSP00000349687.3:n.243+9G>A
ENST00000357164.3:c.243+9G>A ENSP00000349687.3:n.243+9G>A
ENST00000523004.1:c.118+9G>A
ENST00000523466.5:c.288+9G>A ENSP00000429100.1:n.288+9G>A
NM_000405.4:c.243+9G>A NP_000396.2:n.243+9G>A
NM_001167607.1:c.243+9G>A NP_001161079.1:n.243+9G>A
NM_000405.5:c.243+9G>A MANE Select NP_000396.2:n.243+9G>A
NM_001167607.2:c.243+9G>A NP_001161079.1:n.243+9G>A
NM_001167607.3:c.243+9G>A NP_001161079.1:n.243+9G>A
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