Canonical Allele Identifier: CA309024812

Gene: NOVA2

Linked Data

• dbSNP Id: rs1990932
• gnomAD v2: 19-46440300-A-C
• gnomAD v3: 19-45937042-A-C
• gnomAD v4: 19-45937042-A-C
• MyVariant Identifiers: chr19:g.46440300A>C (hg19) ; chr19:g.45937042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45937042A>C , CM000681.2:g.45937042A>C	GRCh38
NC_000019.9:g.46440300A>C , CM000681.1:g.46440300A>C	GRCh37
NC_000019.8:g.51132140A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000263257.6:c.*2821T>G MANE Select	ENSP00000263257.4:n.*2821T>G
ENST00000676183.1:c.*2821T>G	ENSP00000501708.1:n.*2821T>G
ENST00000263257.5:c.*2821T>G	ENSP00000263257.4:n.*2821T>G
XM_006723230.2:c.*2821T>G	XP_006723293.1:n.*2821T>G
XM_011526994.1:c.*2821T>G	XP_011525296.1:n.*2821T>G
NM_002516.3:c.*2821T>G	NP_002507.1:n.*2821T>G
XM_006723230.3:c.*2821T>G	XP_006723293.1:n.*2821T>G
XM_017026838.1:c.*2821T>G	XP_016882327.1:n.*2821T>G
XM_017026839.1:c.*2821T>G	XP_016882328.1:n.*2821T>G
XM_017026840.1:c.*2821T>G	XP_016882329.1:n.*2821T>G
NM_002516.4:c.*2821T>G MANE Select	NP_002507.1:n.*2821T>G