Canonical Allele Identifier: CA411152998

Gene: NF2

Linked Data

• ClinVar Variation Id: 2885274
• ClinVar RCV Id: RCV003608541
• dbSNP Id: rs1347744596
• gnomAD v2: 22-30035088-C-T
• gnomAD v3: 22-29639099-C-T
• gnomAD v4: 22-29639099-C-T
• COSMIC: COSM3553191 ; COSM3553192
• MyVariant Identifiers: chr22:g.30035088C>T (hg19) ; chr22:g.29639099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639099C>T , CM000684.2:g.29639099C>T	GRCh38
NC_000022.10:g.30035088C>T , CM000684.1:g.30035088C>T	GRCh37
NC_000022.9:g.28365088C>T	NCBI36
NG_009057.1:g.40544C>T , LRG_511:g.40544C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.250C>T	ENSP00000354529.6:p.His84Tyr
ENST00000673312.2:c.250C>T	ENSP00000500186.2:p.His84Tyr
ENST00000338641.10:c.250C>T MANE Select	ENSP00000344666.5:p.His84Tyr
ENST00000672461.1:c.250C>T	ENSP00000500919.1:p.His84Tyr
ENST00000672805.1:c.*132C>T	ENSP00000500295.1:n.*132C>T
ENST00000672896.1:c.250C>T	ENSP00000500117.1:p.His84Tyr
ENST00000673312.1:c.163C>T	ENSP00000500186.1:p.His55Tyr
ENST00000334961.11:c.115-3103C>T	ENSP00000335652.7:n.115-3103C>T
ENST00000338641.8:c.250C>T	ENSP00000344666.4:p.His84Tyr
ENST00000353887.8:c.115-3103C>T	ENSP00000340626.4:n.115-3103C>T
ENST00000361166.8:c.250C>T	ENSP00000354529.4:p.His84Tyr
ENST00000361452.8:c.240+2223C>T	ENSP00000354897.4:n.240+2223C>T
ENST00000361676.8:c.124C>T	ENSP00000355183.4:p.His42Tyr
ENST00000397789.3:c.250C>T	ENSP00000380891.3:p.His84Tyr
ENST00000403435.5:c.250C>T	ENSP00000384029.1:p.His84Tyr
ENST00000403999.7:c.250C>T	ENSP00000384797.3:p.His84Tyr
ENST00000413209.6:c.250C>T	ENSP00000409921.2:p.His84Tyr
ENST00000432151.5:c.115-3103C>T	ENSP00000395885.1:n.115-3103C>T
NM_000268.3:c.250C>T , LRG_511t1:c.250C>T	NP_000259.1:p.His84Tyr
NM_016418.5:c.250C>T , LRG_511t2:c.250C>T	NP_057502.2:p.His84Tyr
NM_181825.2:c.250C>T	NP_861546.1:p.His84Tyr
NM_181828.2:c.124C>T	NP_861966.1:p.His42Tyr
NM_181829.2:c.240+2223C>T	NP_861967.1:n.240+2223C>T
NM_181830.2:c.115-3103C>T	NP_861968.1:n.115-3103C>T
NM_181831.2:c.115-3103C>T	NP_861969.1:n.115-3103C>T
NM_181832.2:c.250C>T	NP_861970.1:p.His84Tyr
NM_181833.2:c.250C>T	NP_861971.1:p.His84Tyr
NR_156186.1:n.809C>T
XM_017028809.2:c.136C>T	XP_016884298.1:p.His46Tyr
XM_017028810.1:c.136C>T	XP_016884299.1:p.His46Tyr
NM_000268.4:c.250C>T MANE Select	NP_000259.1:p.His84Tyr
NM_181825.3:c.250C>T	NP_861546.1:p.His84Tyr
NM_181828.3:c.124C>T	NP_861966.1:p.His42Tyr
NM_181829.3:c.240+2223C>T	NP_861967.1:n.240+2223C>T
NM_181830.3:c.115-3103C>T	NP_861968.1:n.115-3103C>T
NM_181831.3:c.115-3103C>T	NP_861969.1:n.115-3103C>T
NM_181832.3:c.250C>T	NP_861970.1:p.His84Tyr
NR_156186.2:n.732C>T
NM_181833.3:c.250C>T	NP_861971.1:p.His84Tyr