Canonical Allele Identifier: CA411142281

Gene: NF2

Linked Data

• ClinVar Variation Id: 572737
• ClinVar RCV Id: RCV002334307
• dbSNP Id: rs1346860299
• gnomAD v3: 22-29655598-T-C
• gnomAD v4: 22-29655598-T-C
• MyVariant Identifiers: chr22:g.30051587T>C (hg19) ; chr22:g.29655598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655598T>C , CM000684.2:g.29655598T>C	GRCh38
NC_000022.10:g.30051587T>C , CM000684.1:g.30051587T>C	GRCh37
NC_000022.9:g.28381587T>C	NCBI36
NG_009057.1:g.57043T>C , LRG_511:g.57043T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.521T>C	ENSP00000354529.6:p.Ile174Thr
ENST00000673312.2:c.*15T>C	ENSP00000500186.2:n.*15T>C
ENST00000338641.10:c.521T>C MANE Select	ENSP00000344666.5:p.Ile174Thr
ENST00000361166.9:c.74T>C	ENSP00000354529.5:p.Ile25Thr
ENST00000672461.1:c.521T>C	ENSP00000500919.1:p.Ile174Thr
ENST00000672805.1:c.*403T>C	ENSP00000500295.1:n.*403T>C
ENST00000672896.1:c.521T>C	ENSP00000500117.1:p.Ile174Thr
ENST00000673312.1:c.540T>C	ENSP00000500186.1:n.540T>C
ENST00000334961.11:c.272T>C	ENSP00000335652.7:p.Ile91Thr
ENST00000338641.8:c.521T>C	ENSP00000344666.4:p.Ile174Thr
ENST00000353887.8:c.272T>C	ENSP00000340626.4:p.Ile91Thr
ENST00000361166.8:c.521T>C	ENSP00000354529.4:p.Ile174Thr
ENST00000361452.8:c.398T>C	ENSP00000354897.4:p.Ile133Thr
ENST00000361676.8:c.395T>C	ENSP00000355183.4:p.Ile132Thr
ENST00000397789.3:c.521T>C	ENSP00000380891.3:p.Ile174Thr
ENST00000403435.5:c.521T>C	ENSP00000384029.1:p.Ile174Thr
ENST00000403999.7:c.521T>C	ENSP00000384797.3:p.Ile174Thr
ENST00000413209.6:c.447+13313T>C	ENSP00000409921.2:n.447+13313T>C
ENST00000432151.5:c.199-5607T>C	ENSP00000395885.1:n.199-5607T>C
NM_000268.3:c.521T>C , LRG_511t1:c.521T>C	NP_000259.1:p.Ile174Thr
NM_016418.5:c.521T>C , LRG_511t2:c.521T>C	NP_057502.2:p.Ile174Thr
NM_181825.2:c.521T>C	NP_861546.1:p.Ile174Thr
NM_181828.2:c.395T>C	NP_861966.1:p.Ile132Thr
NM_181829.2:c.398T>C	NP_861967.1:p.Ile133Thr
NM_181830.2:c.272T>C	NP_861968.1:p.Ile91Thr
NM_181831.2:c.272T>C	NP_861969.1:p.Ile91Thr
NM_181832.2:c.521T>C	NP_861970.1:p.Ile174Thr
NM_181833.2:c.447+13313T>C	NP_861971.1:n.447+13313T>C
NR_156186.1:n.1080T>C
XM_017028809.2:c.407T>C	XP_016884298.1:p.Ile136Thr
XM_017028810.1:c.407T>C	XP_016884299.1:p.Ile136Thr
NM_000268.4:c.521T>C MANE Select	NP_000259.1:p.Ile174Thr
NM_181825.3:c.521T>C	NP_861546.1:p.Ile174Thr
NM_181828.3:c.395T>C	NP_861966.1:p.Ile132Thr
NM_181829.3:c.398T>C	NP_861967.1:p.Ile133Thr
NM_181830.3:c.272T>C	NP_861968.1:p.Ile91Thr
NM_181831.3:c.272T>C	NP_861969.1:p.Ile91Thr
NM_181832.3:c.521T>C	NP_861970.1:p.Ile174Thr
NR_156186.2:n.1003T>C
NM_181833.3:c.447+13313T>C	NP_861971.1:n.447+13313T>C