Canonical Allele Identifier: CA1024926754

Gene: NF2

Linked Data

• dbSNP Id: rs2067510070
• gnomAD v3: 22-29695040-G-C
• gnomAD v4: 22-29695040-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695040G>C , CM000684.2:g.29695040G>C	GRCh38
NC_000022.10:g.30091029G>C , CM000684.1:g.30091029G>C	GRCh37
NC_000022.9:g.28421029G>C	NCBI36
NG_009057.1:g.96485G>C , LRG_511:g.96485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*238G>C	ENSP00000354529.6:n.*238G>C
ENST00000673312.2:c.*1520G>C	ENSP00000500186.2:n.*1520G>C
ENST00000338641.10:c.*238G>C MANE Select	ENSP00000344666.5:n.*238G>C
ENST00000361166.9:c.1444G>C	ENSP00000354529.5:n.1444G>C
ENST00000672461.1:c.*298G>C	ENSP00000500919.1:n.*298G>C
ENST00000672896.1:c.*298G>C	ENSP00000500117.1:n.*298G>C
ENST00000673312.1:c.2045G>C	ENSP00000500186.1:n.2045G>C
ENST00000338641.8:c.*238G>C	ENSP00000344666.4:n.*238G>C
ENST00000361452.8:c.*298G>C	ENSP00000354897.4:n.*298G>C
ENST00000413209.6:c.*238G>C	ENSP00000409921.2:n.*238G>C
NM_000268.3:c.*238G>C , LRG_511t1:c.*238G>C	NP_000259.1:n.*238G>C
NM_016418.5:c.*298G>C , LRG_511t2:c.*298G>C	NP_057502.2:n.*298G>C
NM_181828.2:c.*298G>C	NP_861966.1:n.*298G>C
NM_181829.2:c.*298G>C	NP_861967.1:n.*298G>C
NM_181830.2:c.*298G>C	NP_861968.1:n.*298G>C
NM_181832.2:c.*313G>C	NP_861970.1:n.*313G>C
NM_181833.2:c.*238G>C	NP_861971.1:n.*238G>C
NR_156186.1:n.2585G>C
XM_017028809.2:c.*238G>C	XP_016884298.1:n.*238G>C
XM_017028810.1:c.*298G>C	XP_016884299.1:n.*298G>C
NM_000268.4:c.*238G>C MANE Select	NP_000259.1:n.*238G>C
NM_181828.3:c.*298G>C	NP_861966.1:n.*298G>C
NM_181829.3:c.*298G>C	NP_861967.1:n.*298G>C
NM_181830.3:c.*298G>C	NP_861968.1:n.*298G>C
NM_181832.3:c.*313G>C	NP_861970.1:n.*313G>C
NR_156186.2:n.2508G>C
NM_181833.3:c.*238G>C	NP_861971.1:n.*238G>C