Canonical Allele Identifier: CA2695198782
Gene: GM2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151267282T>A , CM000667.2:g.151267282T>A GRCh38
NC_000005.9:g.150646843T>A , CM000667.1:g.150646843T>A GRCh37
NC_000005.8:g.150627036T>A NCBI36
NG_009059.1:g.19231T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.427-14T>A MANE Select ENSP00000349687.3:n.427-14T>A
ENST00000357164.3:c.427-14T>A ENSP00000349687.3:n.427-14T>A
NM_000405.4:c.427-14T>A NP_000396.2:n.427-14T>A
NM_001167607.1:c.413-210T>A NP_001161079.1:n.413-210T>A
NM_000405.5:c.427-14T>A MANE Select NP_000396.2:n.427-14T>A
NM_001167607.2:c.413-210T>A NP_001161079.1:n.413-210T>A
NM_001167607.3:c.413-210T>A NP_001161079.1:n.413-210T>A