Canonical Allele Identifier: CA323114412

Gene: NF2

Linked Data

• dbSNP Id: rs991033781
• gnomAD v3: 22-29668259-T-C
• gnomAD v4: 22-29668259-T-C
• MyVariant Identifiers: chr22:g.30064248T>C (hg19) ; chr22:g.29668259T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29668259T>C , CM000684.2:g.29668259T>C	GRCh38
NC_000022.10:g.30064248T>C , CM000684.1:g.30064248T>C	GRCh37
NC_000022.9:g.28394248T>C	NCBI36
NG_009057.1:g.69704T>C , LRG_511:g.69704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.751-74T>C	ENSP00000354529.6:n.751-74T>C
ENST00000673312.2:c.*380-74T>C	ENSP00000500186.2:n.*380-74T>C
ENST00000338641.10:c.886-74T>C MANE Select	ENSP00000344666.5:n.886-74T>C
ENST00000361166.9:c.304-74T>C	ENSP00000354529.5:n.304-74T>C
ENST00000672461.1:c.886-74T>C	ENSP00000500919.1:n.886-74T>C
ENST00000672805.1:c.*768-74T>C	ENSP00000500295.1:n.*768-74T>C
ENST00000672896.1:c.886-74T>C	ENSP00000500117.1:n.886-74T>C
ENST00000673312.1:c.905-74T>C	ENSP00000500186.1:n.905-74T>C
ENST00000334961.11:c.637-74T>C	ENSP00000335652.7:n.637-74T>C
ENST00000338641.8:c.886-74T>C	ENSP00000344666.4:n.886-74T>C
ENST00000353887.8:c.637-74T>C	ENSP00000340626.4:n.637-74T>C
ENST00000361166.8:c.886-74T>C	ENSP00000354529.4:n.886-74T>C
ENST00000361452.8:c.763-74T>C	ENSP00000354897.4:n.763-74T>C
ENST00000361676.8:c.760-74T>C	ENSP00000355183.4:n.760-74T>C
ENST00000397789.3:c.886-74T>C	ENSP00000380891.3:n.886-74T>C
ENST00000403435.5:c.886-74T>C	ENSP00000384029.1:n.886-74T>C
ENST00000403999.7:c.886-74T>C	ENSP00000384797.3:n.886-74T>C
ENST00000413209.6:c.447+25974T>C	ENSP00000409921.2:n.447+25974T>C
ENST00000432151.5:c.409-74T>C	ENSP00000395885.1:n.409-74T>C
NM_000268.3:c.886-74T>C , LRG_511t1:c.886-74T>C	NP_000259.1:n.886-74T>C
NM_016418.5:c.886-74T>C , LRG_511t2:c.886-74T>C	NP_057502.2:n.886-74T>C
NM_181825.2:c.886-74T>C	NP_861546.1:n.886-74T>C
NM_181828.2:c.760-74T>C	NP_861966.1:n.760-74T>C
NM_181829.2:c.763-74T>C	NP_861967.1:n.763-74T>C
NM_181830.2:c.637-74T>C	NP_861968.1:n.637-74T>C
NM_181831.2:c.637-74T>C	NP_861969.1:n.637-74T>C
NM_181832.2:c.886-74T>C	NP_861970.1:n.886-74T>C
NM_181833.2:c.447+25974T>C	NP_861971.1:n.447+25974T>C
NR_156186.1:n.1445-74T>C
XM_017028809.2:c.772-74T>C	XP_016884298.1:n.772-74T>C
XM_017028810.1:c.772-74T>C	XP_016884299.1:n.772-74T>C
NM_000268.4:c.886-74T>C MANE Select	NP_000259.1:n.886-74T>C
NM_181825.3:c.886-74T>C	NP_861546.1:n.886-74T>C
NM_181828.3:c.760-74T>C	NP_861966.1:n.760-74T>C
NM_181829.3:c.763-74T>C	NP_861967.1:n.763-74T>C
NM_181830.3:c.637-74T>C	NP_861968.1:n.637-74T>C
NM_181831.3:c.637-74T>C	NP_861969.1:n.637-74T>C
NM_181832.3:c.886-74T>C	NP_861970.1:n.886-74T>C
NR_156186.2:n.1368-74T>C
NM_181833.3:c.447+25974T>C	NP_861971.1:n.447+25974T>C