Canonical Allele Identifier: CA2656033019

Gene: NF2

Linked Data

• gnomAD v4: 22-29694915-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694915G>C , CM000684.2:g.29694915G>C	GRCh38
NC_000022.10:g.30090904G>C , CM000684.1:g.30090904G>C	GRCh37
NC_000022.9:g.28420904G>C	NCBI36
NG_009057.1:g.96360G>C , LRG_511:g.96360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*113G>C	ENSP00000354529.6:n.*113G>C
ENST00000673312.2:c.*1395G>C	ENSP00000500186.2:n.*1395G>C
ENST00000338641.10:c.*113G>C MANE Select	ENSP00000344666.5:n.*113G>C
ENST00000361166.9:c.1319G>C	ENSP00000354529.5:n.1319G>C
ENST00000672461.1:c.*173G>C	ENSP00000500919.1:n.*173G>C
ENST00000672805.1:c.*1783G>C	ENSP00000500295.1:n.*1783G>C
ENST00000672896.1:c.*173G>C	ENSP00000500117.1:n.*173G>C
ENST00000673312.1:c.1920G>C	ENSP00000500186.1:n.1920G>C
ENST00000338641.8:c.*113G>C	ENSP00000344666.4:n.*113G>C
ENST00000361452.8:c.*173G>C	ENSP00000354897.4:n.*173G>C
ENST00000413209.6:c.*113G>C	ENSP00000409921.2:n.*113G>C
ENST00000432151.5:c.*257G>C	ENSP00000395885.1:n.*257G>C
NM_000268.3:c.*113G>C , LRG_511t1:c.*113G>C	NP_000259.1:n.*113G>C
NM_016418.5:c.*173G>C , LRG_511t2:c.*173G>C	NP_057502.2:n.*173G>C
NM_181828.2:c.*173G>C	NP_861966.1:n.*173G>C
NM_181829.2:c.*173G>C	NP_861967.1:n.*173G>C
NM_181830.2:c.*173G>C	NP_861968.1:n.*173G>C
NM_181832.2:c.*188G>C	NP_861970.1:n.*188G>C
NM_181833.2:c.*113G>C	NP_861971.1:n.*113G>C
NR_156186.1:n.2460G>C
XM_017028809.2:c.*113G>C	XP_016884298.1:n.*113G>C
XM_017028810.1:c.*173G>C	XP_016884299.1:n.*173G>C
NM_000268.4:c.*113G>C MANE Select	NP_000259.1:n.*113G>C
NM_181828.3:c.*173G>C	NP_861966.1:n.*173G>C
NM_181829.3:c.*173G>C	NP_861967.1:n.*173G>C
NM_181830.3:c.*173G>C	NP_861968.1:n.*173G>C
NM_181832.3:c.*188G>C	NP_861970.1:n.*188G>C
NR_156186.2:n.2383G>C
NM_181833.3:c.*113G>C	NP_861971.1:n.*113G>C