Canonical Allele Identifier: CA021341

Gene: NF2

Linked Data

• ClinVar Variation Id: 201125
• ClinVar RCV Id: RCV000203209 ; RCV000565248
• dbSNP Id: rs201527155
• ExAC: 22:30074278 A / G
• gnomAD v2: 22-30074278-A-G
• gnomAD v3: 22-29678289-A-G
• gnomAD v4: 22-29678289-A-G
• COSMIC: COSM327310
• MyVariant Identifiers: chr22:g.30074278A>G (hg19) ; chr22:g.29678289A>G (hg38)
• PubMed: PMID:16983642 ; PMID:26332594

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678289A>G , CM000684.2:g.29678289A>G	GRCh38
NC_000022.10:g.30074278A>G , CM000684.1:g.30074278A>G	GRCh37
NC_000022.9:g.28404278A>G	NCBI36
NG_009057.1:g.79734A>G , LRG_511:g.79734A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1405A>G	ENSP00000354529.6:p.Met469Val
ENST00000673312.2:c.*1034A>G	ENSP00000500186.2:n.*1034A>G
ENST00000338641.10:c.1540A>G MANE Select	ENSP00000344666.5:p.Met514Val
ENST00000361166.9:c.958A>G	ENSP00000354529.5:p.Met320Val
ENST00000672461.1:c.1540A>G	ENSP00000500919.1:p.Met514Val
ENST00000672805.1:c.*1422A>G	ENSP00000500295.1:n.*1422A>G
ENST00000672896.1:c.1540A>G	ENSP00000500117.1:p.Met514Val
ENST00000673312.1:c.1559A>G	ENSP00000500186.1:n.1559A>G
ENST00000334961.11:c.1291A>G	ENSP00000335652.7:p.Met431Val
ENST00000338641.8:c.1540A>G	ENSP00000344666.4:p.Met514Val
ENST00000353887.8:c.1291A>G	ENSP00000340626.4:p.Met431Val
ENST00000361166.8:c.1540A>G	ENSP00000354529.4:p.Met514Val
ENST00000361452.8:c.1417A>G	ENSP00000354897.4:p.Met473Val
ENST00000361676.8:c.1414A>G	ENSP00000355183.4:p.Met472Val
ENST00000397789.3:c.1540A>G	ENSP00000380891.3:p.Met514Val
ENST00000403435.5:c.1453A>G	ENSP00000384029.1:p.Met485Val
ENST00000403999.7:c.1540A>G	ENSP00000384797.3:p.Met514Val
ENST00000413209.6:c.448-16463A>G	ENSP00000409921.2:n.448-16463A>G
ENST00000432151.5:c.*59A>G	ENSP00000395885.1:n.*59A>G
NM_000268.3:c.1540A>G , LRG_511t1:c.1540A>G	NP_000259.1:p.Met514Val
NM_016418.5:c.1540A>G , LRG_511t2:c.1540A>G	NP_057502.2:p.Met514Val
NM_181825.2:c.1540A>G	NP_861546.1:p.Met514Val
NM_181828.2:c.1414A>G	NP_861966.1:p.Met472Val
NM_181829.2:c.1417A>G	NP_861967.1:p.Met473Val
NM_181830.2:c.1291A>G	NP_861968.1:p.Met431Val
NM_181831.2:c.1291A>G	NP_861969.1:p.Met431Val
NM_181832.2:c.1540A>G	NP_861970.1:p.Met514Val
NM_181833.2:c.448-16463A>G	NP_861971.1:n.448-16463A>G
NR_156186.1:n.2099A>G
XM_017028809.2:c.1426A>G	XP_016884298.1:p.Met476Val
XM_017028810.1:c.1426A>G	XP_016884299.1:p.Met476Val
NM_000268.4:c.1540A>G MANE Select	NP_000259.1:p.Met514Val
NM_181825.3:c.1540A>G	NP_861546.1:p.Met514Val
NM_181828.3:c.1414A>G	NP_861966.1:p.Met472Val
NM_181829.3:c.1417A>G	NP_861967.1:p.Met473Val
NM_181830.3:c.1291A>G	NP_861968.1:p.Met431Val
NM_181831.3:c.1291A>G	NP_861969.1:p.Met431Val
NM_181832.3:c.1540A>G	NP_861970.1:p.Met514Val
NR_156186.2:n.2022A>G
NM_181833.3:c.448-16463A>G	NP_861971.1:n.448-16463A>G