Canonical Allele Identifier: CA16044025
Gene: GM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 375272
ClinVar RCV Id: RCV000416363
dbSNP Id: rs1057519022

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151266729A>T , CM000667.2:g.151266729A>T GRCh38
NC_000005.9:g.150646290A>T , CM000667.1:g.150646290A>T GRCh37
NC_000005.8:g.150626483A>T NCBI36
NG_009059.1:g.18678A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357164.4:c.244-2A>T MANE Select ENSP00000349687.3:n.244-2A>T
ENST00000357164.3:c.244-2A>T ENSP00000349687.3:n.244-2A>T
ENST00000523004.1:c.119-2A>T
ENST00000523466.5:c.289-2A>T ENSP00000429100.1:n.289-2A>T
NM_000405.4:c.244-2A>T NP_000396.2:n.244-2A>T
NM_001167607.1:c.244-2A>T NP_001161079.1:n.244-2A>T
NM_000405.5:c.244-2A>T MANE Select NP_000396.2:n.244-2A>T
NM_001167607.2:c.244-2A>T NP_001161079.1:n.244-2A>T
NM_001167607.3:c.244-2A>T NP_001161079.1:n.244-2A>T