Canonical Allele Identifier: CA114233

Gene: GM2A

Linked Data

• ClinVar Variation Id: 390
• ClinVar RCV Id: RCV000000421
• dbSNP Id: rs137852797
• gnomAD v2: 5-150646460-T-C
• gnomAD v3: 5-151266899-T-C
• gnomAD v4: 5-151266899-T-C
• MyVariant Identifiers: chr5:g.150646460T>C (hg19) ; chr5:g.151266899T>C (hg38)
• PubMed: PMID:174379 ; PMID:1570834 ; PMID:1915858

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151266899T>C , CM000667.2:g.151266899T>C	GRCh38
NC_000005.9:g.150646460T>C , CM000667.1:g.150646460T>C	GRCh37
NC_000005.8:g.150626653T>C	NCBI36
NG_009059.1:g.18848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.412T>C MANE Select	ENSP00000349687.3:p.Cys138Arg
ENST00000357164.3:c.412T>C	ENSP00000349687.3:p.Cys138Arg
ENST00000523004.1:c.287T>C
NM_000405.4:c.412T>C	NP_000396.2:p.Cys138Arg
NM_001167607.1:c.412T>C	NP_001161079.1:p.Cys138Arg
NM_000405.5:c.412T>C MANE Select	NP_000396.2:p.Cys138Arg
NM_001167607.2:c.412T>C	NP_001161079.1:p.Cys138Arg
NM_001167607.3:c.412T>C	NP_001161079.1:p.Cys138Arg