Canonical Allele Identifier: CA2338682429
Community Standard Title: NM_002516.4(NOVA2):c.*2821T=
Gene: NOVA2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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