Canonical Allele Identifier: CA2547721968

Gene: GM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259844del , CM000667.2:g.151259844del	GRCh38
NC_000005.9:g.150639405del , CM000667.1:g.150639405del	GRCh37
NC_000005.8:g.150619598del	NCBI36
NG_009059.1:g.11793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.171del MANE Select	ENSP00000349687.3:p.Ile58SerfsTer7
ENST00000357164.3:c.171del	ENSP00000349687.3:p.Ile58SerfsTer7
ENST00000523004.1:c.46del
ENST00000523466.5:c.216del	ENSP00000429100.1:p.Ile73SerfsTer7
NM_000405.4:c.171del	NP_000396.2:p.Ile58SerfsTer7
NM_001167607.1:c.171del	NP_001161079.1:p.Ile58SerfsTer7
NM_000405.5:c.171del MANE Select	NP_000396.2:p.Ile58SerfsTer7
NM_001167607.2:c.171del	NP_001161079.1:p.Ile58SerfsTer7
NM_001167607.3:c.171del	NP_001161079.1:p.Ile58SerfsTer7