Canonical Allele Identifier: CA2400693246

Gene: NF2

Linked Data

• dbSNP Id: rs1385477792

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696829_29696830insA , CM000684.2:g.29696829_29696830insA	GRCh38
NC_000022.10:g.30092818_30092819insA , CM000684.1:g.30092818_30092819insA	GRCh37
NC_000022.9:g.28422818_28422819insA	NCBI36
NG_009057.1:g.98274_98275insA , LRG_511:g.98274_98275insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2027_*2028insA MANE Select	ENSP00000344666.5:n.*2027_*2028insA
ENST00000672461.1:c.*502-432_*502-431insA	ENSP00000500919.1:n.*502-432_*502-431insA
ENST00000672896.1:c.*2087_*2088insA	ENSP00000500117.1:n.*2087_*2088insA
ENST00000338641.8:c.*2027_*2028insA	ENSP00000344666.4:n.*2027_*2028insA
ENST00000361452.8:c.*2087_*2088insA	ENSP00000354897.4:n.*2087_*2088insA
ENST00000413209.6:c.*2027_*2028insA	ENSP00000409921.2:n.*2027_*2028insA
NM_000268.3:c.*2027_*2028insA , LRG_511t1:c.*2027_*2028insA	NP_000259.1:n.*2027_*2028insA
NM_016418.5:c.*2087_*2088insA , LRG_511t2:c.*2087_*2088insA	NP_057502.2:n.*2087_*2088insA
NM_181828.2:c.*2087_*2088insA	NP_861966.1:n.*2087_*2088insA
NM_181829.2:c.*2087_*2088insA	NP_861967.1:n.*2087_*2088insA
NM_181830.2:c.*2087_*2088insA	NP_861968.1:n.*2087_*2088insA
NM_181832.2:c.*2102_*2103insA	NP_861970.1:n.*2102_*2103insA
NM_181833.2:c.*2027_*2028insA	NP_861971.1:n.*2027_*2028insA
NR_156186.1:n.4374_4375insA
XM_017028810.1:c.*2087_*2088insA	XP_016884299.1:n.*2087_*2088insA
NM_000268.4:c.*2027_*2028insA MANE Select	NP_000259.1:n.*2027_*2028insA
NM_181828.3:c.*2087_*2088insA	NP_861966.1:n.*2087_*2088insA
NM_181829.3:c.*2087_*2088insA	NP_861967.1:n.*2087_*2088insA
NM_181830.3:c.*2087_*2088insA	NP_861968.1:n.*2087_*2088insA
NM_181832.3:c.*2102_*2103insA	NP_861970.1:n.*2102_*2103insA
NR_156186.2:n.4297_4298insA
NM_181833.3:c.*2027_*2028insA	NP_861971.1:n.*2027_*2028insA