Canonical Allele Identifier: CA916083697

Gene: NOVA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45940629_45940648dup , CM000681.2:g.45940629_45940648dup	GRCh38
NC_000019.9:g.46443887_46443906dup , CM000681.1:g.46443887_46443906dup	GRCh37
NC_000019.8:g.51135727_51135746dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002516.4:c.701_720dup MANE Select	NP_002507.1:p.Ala241ProfsTer?
ENST00000263257.6:c.701_720dup MANE Select	ENSP00000263257.4:p.Ala241ProfsTer?
NM_002516.2:c.701_720dup	NP_002507.1:p.Ala241ProfsTer?
NM_002516.3:c.701_720dup	NP_002507.1:p.Ala241ProfsTer?
ENST00000263257.5:c.701_720dup	ENSP00000263257.4:p.Ala241ProfsTer?
ENST00000676183.1:c.893_912dup	ENSP00000501708.1:p.Ala305ProfsTer?
XM_006723230.2:c.374_393dup	XP_006723293.1:p.Ala132ProfsTer?
XM_006723230.3:c.374_393dup	XP_006723293.1:p.Ala132ProfsTer?
XM_011526994.1:c.782_801dup	XP_011525296.1:p.Ala268ProfsTer?
XM_011526995.1:c.233_252dup	XP_011525297.1:p.Ala85ProfsTer?
XM_011526996.1:c.233_252dup	XP_011525298.1:p.Ala85ProfsTer?
XM_017026838.1:c.374_393dup	XP_016882327.1:p.Ala132ProfsTer?
XM_017026839.1:c.374_393dup	XP_016882328.1:p.Ala132ProfsTer?
XM_017026840.1:c.374_393dup	XP_016882329.1:p.Ala132ProfsTer?