Canonical Allele Identifier: CA2825002879

Gene: NF2

Linked Data

• ClinVar Variation Id: 3071708
• ClinVar RCV Id: RCV004016202

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29681457del , CM000684.2:g.29681457del	GRCh38
NC_000022.10:g.30077446del , CM000684.1:g.30077446del	GRCh37
NC_000022.9:g.28407446del	NCBI36
NG_009057.1:g.82902del , LRG_511:g.82902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1458del	ENSP00000354529.6:p.Ser487AlafsTer18
ENST00000673312.2:c.*1087del	ENSP00000500186.2:n.*1087del
ENST00000338641.10:c.1593del MANE Select	ENSP00000344666.5:p.Ser532AlafsTer18
ENST00000361166.9:c.1011del	ENSP00000354529.5:p.Ser338AlafsTer18
ENST00000672461.1:c.1593del	ENSP00000500919.1:p.Ser532AlafsTer18
ENST00000672805.1:c.*1475del	ENSP00000500295.1:n.*1475del
ENST00000672896.1:c.1593del	ENSP00000500117.1:p.Ser532AlafsTer18
ENST00000673312.1:c.1612del	ENSP00000500186.1:n.1612del
ENST00000334961.11:c.1344del	ENSP00000335652.7:p.Ser449AlafsTer18
ENST00000338641.8:c.1593del	ENSP00000344666.4:p.Ser532AlafsTer18
ENST00000353887.8:c.1344del	ENSP00000340626.4:p.Ser449AlafsTer18
ENST00000361166.8:c.1593del	ENSP00000354529.4:p.Ser532AlafsTer18
ENST00000361452.8:c.1470del	ENSP00000354897.4:p.Ser491AlafsTer18
ENST00000361676.8:c.1467del	ENSP00000355183.4:p.Ser490AlafsTer18
ENST00000397789.3:c.1593del	ENSP00000380891.3:p.Ser532AlafsTer18
ENST00000403435.5:c.1506del	ENSP00000384029.1:p.Ser503AlafsTer18
ENST00000403999.7:c.1593del	ENSP00000384797.3:p.Ser532AlafsTer18
ENST00000413209.6:c.448-13295del	ENSP00000409921.2:n.448-13295del
ENST00000432151.5:c.*93+3134del	ENSP00000395885.1:n.*93+3134del
NM_000268.3:c.1593del , LRG_511t1:c.1593del	NP_000259.1:p.Ser532AlafsTer18
NM_016418.5:c.1593del , LRG_511t2:c.1593del	NP_057502.2:p.Ser532AlafsTer18
NM_181825.2:c.1593del	NP_861546.1:p.Ser532AlafsTer18
NM_181828.2:c.1467del	NP_861966.1:p.Ser490AlafsTer18
NM_181829.2:c.1470del	NP_861967.1:p.Ser491AlafsTer18
NM_181830.2:c.1344del	NP_861968.1:p.Ser449AlafsTer18
NM_181831.2:c.1344del	NP_861969.1:p.Ser449AlafsTer18
NM_181832.2:c.1593del	NP_861970.1:p.Ser532AlafsTer18
NM_181833.2:c.448-13295del	NP_861971.1:n.448-13295del
NR_156186.1:n.2152del
XM_017028809.2:c.1479del	XP_016884298.1:p.Ser494AlafsTer18
XM_017028810.1:c.1479del	XP_016884299.1:p.Ser494AlafsTer18
NM_000268.4:c.1593del MANE Select	NP_000259.1:p.Ser532AlafsTer18
NM_181825.3:c.1593del	NP_861546.1:p.Ser532AlafsTer18
NM_181828.3:c.1467del	NP_861966.1:p.Ser490AlafsTer18
NM_181829.3:c.1470del	NP_861967.1:p.Ser491AlafsTer18
NM_181830.3:c.1344del	NP_861968.1:p.Ser449AlafsTer18
NM_181831.3:c.1344del	NP_861969.1:p.Ser449AlafsTer18
NM_181832.3:c.1593del	NP_861970.1:p.Ser532AlafsTer18
NR_156186.2:n.2075del
NM_181833.3:c.448-13295del	NP_861971.1:n.448-13295del