Canonical Allele Identifier: CA411153406

Gene: NF2

Linked Data

• ClinVar Variation Id: 1067623
• ClinVar RCV Id: RCV001378942 ; RCV002460151
• dbSNP Id: rs2146873271
• MyVariant Identifiers: chr22:g.30035203T>C (hg19) ; chr22:g.29639214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639214T>C , CM000684.2:g.29639214T>C	GRCh38
NC_000022.10:g.30035203T>C , CM000684.1:g.30035203T>C	GRCh37
NC_000022.9:g.28365203T>C	NCBI36
NG_009057.1:g.40659T>C , LRG_511:g.40659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.363+2T>C	ENSP00000354529.6:n.363+2T>C
ENST00000673312.2:c.363+2T>C	ENSP00000500186.2:n.363+2T>C
ENST00000338641.10:c.363+2T>C MANE Select	ENSP00000344666.5:n.363+2T>C
ENST00000672461.1:c.363+2T>C	ENSP00000500919.1:n.363+2T>C
ENST00000672805.1:c.*245+2T>C	ENSP00000500295.1:n.*245+2T>C
ENST00000672896.1:c.363+2T>C	ENSP00000500117.1:n.363+2T>C
ENST00000673312.1:c.276+2T>C	ENSP00000500186.1:n.276+2T>C
ENST00000334961.11:c.115-2988T>C	ENSP00000335652.7:n.115-2988T>C
ENST00000338641.8:c.363+2T>C	ENSP00000344666.4:n.363+2T>C
ENST00000353887.8:c.115-2988T>C	ENSP00000340626.4:n.115-2988T>C
ENST00000361166.8:c.363+2T>C	ENSP00000354529.4:n.363+2T>C
ENST00000361452.8:c.240+2338T>C	ENSP00000354897.4:n.240+2338T>C
ENST00000361676.8:c.237+2T>C	ENSP00000355183.4:n.237+2T>C
ENST00000397789.3:c.363+2T>C	ENSP00000380891.3:n.363+2T>C
ENST00000403435.5:c.363+2T>C	ENSP00000384029.1:n.363+2T>C
ENST00000403999.7:c.363+2T>C	ENSP00000384797.3:n.363+2T>C
ENST00000413209.6:c.363+2T>C	ENSP00000409921.2:n.363+2T>C
ENST00000432151.5:c.115-2988T>C	ENSP00000395885.1:n.115-2988T>C
NM_000268.3:c.363+2T>C , LRG_511t1:c.363+2T>C	NP_000259.1:n.363+2T>C
NM_016418.5:c.363+2T>C , LRG_511t2:c.363+2T>C	NP_057502.2:n.363+2T>C
NM_181825.2:c.363+2T>C	NP_861546.1:n.363+2T>C
NM_181828.2:c.237+2T>C	NP_861966.1:n.237+2T>C
NM_181829.2:c.240+2338T>C	NP_861967.1:n.240+2338T>C
NM_181830.2:c.115-2988T>C	NP_861968.1:n.115-2988T>C
NM_181831.2:c.115-2988T>C	NP_861969.1:n.115-2988T>C
NM_181832.2:c.363+2T>C	NP_861970.1:n.363+2T>C
NM_181833.2:c.363+2T>C	NP_861971.1:n.363+2T>C
NR_156186.1:n.922+2T>C
XM_017028809.2:c.249+2T>C	XP_016884298.1:n.249+2T>C
XM_017028810.1:c.249+2T>C	XP_016884299.1:n.249+2T>C
NM_000268.4:c.363+2T>C MANE Select	NP_000259.1:n.363+2T>C
NM_181825.3:c.363+2T>C	NP_861546.1:n.363+2T>C
NM_181828.3:c.237+2T>C	NP_861966.1:n.237+2T>C
NM_181829.3:c.240+2338T>C	NP_861967.1:n.240+2338T>C
NM_181830.3:c.115-2988T>C	NP_861968.1:n.115-2988T>C
NM_181831.3:c.115-2988T>C	NP_861969.1:n.115-2988T>C
NM_181832.3:c.363+2T>C	NP_861970.1:n.363+2T>C
NR_156186.2:n.845+2T>C
NM_181833.3:c.363+2T>C	NP_861971.1:n.363+2T>C