Canonical Allele Identifier: CA323121024

Gene: NF2

Linked Data

• dbSNP Id: rs947081985
• gnomAD v2: 22-30034999-C-G
• gnomAD v3: 22-29639010-C-G
• gnomAD v4: 22-29639010-C-G
• MyVariant Identifiers: chr22:g.30034999C>G (hg19) ; chr22:g.29639010C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639010C>G , CM000684.2:g.29639010C>G	GRCh38
NC_000022.10:g.30034999C>G , CM000684.1:g.30034999C>G	GRCh37
NC_000022.9:g.28364999C>G	NCBI36
NG_009057.1:g.40455C>G , LRG_511:g.40455C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.241-80C>G	ENSP00000354529.6:n.241-80C>G
ENST00000673312.2:c.241-80C>G	ENSP00000500186.2:n.241-80C>G
ENST00000338641.10:c.241-80C>G MANE Select	ENSP00000344666.5:n.241-80C>G
ENST00000672461.1:c.241-80C>G	ENSP00000500919.1:n.241-80C>G
ENST00000672805.1:c.*123-80C>G	ENSP00000500295.1:n.*123-80C>G
ENST00000672896.1:c.241-80C>G	ENSP00000500117.1:n.241-80C>G
ENST00000673312.1:c.154-80C>G	ENSP00000500186.1:n.154-80C>G
ENST00000334961.11:c.115-3192C>G	ENSP00000335652.7:n.115-3192C>G
ENST00000338641.8:c.241-80C>G	ENSP00000344666.4:n.241-80C>G
ENST00000353887.8:c.115-3192C>G	ENSP00000340626.4:n.115-3192C>G
ENST00000361166.8:c.241-80C>G	ENSP00000354529.4:n.241-80C>G
ENST00000361452.8:c.240+2134C>G	ENSP00000354897.4:n.240+2134C>G
ENST00000361676.8:c.115-80C>G	ENSP00000355183.4:n.115-80C>G
ENST00000397789.3:c.241-80C>G	ENSP00000380891.3:n.241-80C>G
ENST00000403435.5:c.241-80C>G	ENSP00000384029.1:n.241-80C>G
ENST00000403999.7:c.241-80C>G	ENSP00000384797.3:n.241-80C>G
ENST00000413209.6:c.241-80C>G	ENSP00000409921.2:n.241-80C>G
ENST00000432151.5:c.115-3192C>G	ENSP00000395885.1:n.115-3192C>G
NM_000268.3:c.241-80C>G , LRG_511t1:c.241-80C>G	NP_000259.1:n.241-80C>G
NM_016418.5:c.241-80C>G , LRG_511t2:c.241-80C>G	NP_057502.2:n.241-80C>G
NM_181825.2:c.241-80C>G	NP_861546.1:n.241-80C>G
NM_181828.2:c.115-80C>G	NP_861966.1:n.115-80C>G
NM_181829.2:c.240+2134C>G	NP_861967.1:n.240+2134C>G
NM_181830.2:c.115-3192C>G	NP_861968.1:n.115-3192C>G
NM_181831.2:c.115-3192C>G	NP_861969.1:n.115-3192C>G
NM_181832.2:c.241-80C>G	NP_861970.1:n.241-80C>G
NM_181833.2:c.241-80C>G	NP_861971.1:n.241-80C>G
NR_156186.1:n.800-80C>G
XM_017028809.2:c.127-80C>G	XP_016884298.1:n.127-80C>G
XM_017028810.1:c.127-80C>G	XP_016884299.1:n.127-80C>G
NM_000268.4:c.241-80C>G MANE Select	NP_000259.1:n.241-80C>G
NM_181825.3:c.241-80C>G	NP_861546.1:n.241-80C>G
NM_181828.3:c.115-80C>G	NP_861966.1:n.115-80C>G
NM_181829.3:c.240+2134C>G	NP_861967.1:n.240+2134C>G
NM_181830.3:c.115-3192C>G	NP_861968.1:n.115-3192C>G
NM_181831.3:c.115-3192C>G	NP_861969.1:n.115-3192C>G
NM_181832.3:c.241-80C>G	NP_861970.1:n.241-80C>G
NR_156186.2:n.723-80C>G
NM_181833.3:c.241-80C>G	NP_861971.1:n.241-80C>G