Canonical Allele Identifier: CA447179893

Gene: GM2A

Linked Data

• dbSNP Id: rs2114032466
• MyVariant Identifiers: chr5:g.150639420A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259859A>G , CM000667.2:g.151259859A>G	GRCh38
NC_000005.9:g.150639420A>G , CM000667.1:g.150639420A>G	GRCh37
NC_000005.8:g.150619613A>G	NCBI36
NG_009059.1:g.11808A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.186A>G MANE Select	ENSP00000349687.3:p.Gly62=
ENST00000357164.3:c.186A>G	ENSP00000349687.3:p.Gly62=
ENST00000523004.1:c.61A>G
ENST00000523466.5:c.231A>G	ENSP00000429100.1:p.Gly77=
NM_000405.4:c.186A>G	NP_000396.2:p.Gly62=
NM_001167607.1:c.186A>G	NP_001161079.1:p.Gly62=
NM_000405.5:c.186A>G MANE Select	NP_000396.2:p.Gly62=
NM_001167607.2:c.186A>G	NP_001161079.1:p.Gly62=
NM_001167607.3:c.186A>G	NP_001161079.1:p.Gly62=