Canonical Allele Identifier: CA8303421

Gene: SPNS2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4536217A>G , CM000679.2:g.4536217A>G	GRCh38
NC_000017.10:g.4439512A>G , CM000679.1:g.4439512A>G	GRCh37
NC_000017.9:g.4386261A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329078.8:c.1443+43A>G MANE Select	ENSP00000333292.3:n.1443+43A>G
ENST00000329078.7:c.1443+43A>G	ENSP00000333292.3:n.1443+43A>G
ENST00000570641.1:n.183A>G
ENST00000571386.1:c.453+43A>G	ENSP00000461410.1:n.453+43A>G
ENST00000571668.5:n.227+43A>G
ENST00000573106.1:n.220+43A>G
ENST00000573990.1:n.248A>G
ENST00000576635.6:n.398A>G
NM_001124758.1:c.1443+43A>G	NP_001118230.1:n.1443+43A>G
NM_001124758.2:c.1443+43A>G	NP_001118230.1:n.1443+43A>G
XM_024450574.1:c.1443+43A>G	XP_024306342.1:n.1443+43A>G
NM_001124758.3:c.1443+43A>G MANE Select	NP_001118230.1:n.1443+43A>G