Canonical Allele Identifier: CA411143679

Gene: NF2

Linked Data

• dbSNP Id: rs2147007647
• MyVariant Identifiers: chr22:g.30057200A>G (hg19) ; chr22:g.29661211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661211A>G , CM000684.2:g.29661211A>G	GRCh38
NC_000022.10:g.30057200A>G , CM000684.1:g.30057200A>G	GRCh37
NC_000022.9:g.28387200A>G	NCBI36
NG_009057.1:g.62656A>G , LRG_511:g.62656A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2947A>G	ENSP00000354529.6:n.675+2947A>G
ENST00000673312.2:c.*176A>G	ENSP00000500186.2:n.*176A>G
ENST00000338641.10:c.682A>G MANE Select	ENSP00000344666.5:p.Lys228Glu
ENST00000361166.9:c.228+2947A>G	ENSP00000354529.5:n.228+2947A>G
ENST00000672461.1:c.682A>G	ENSP00000500919.1:p.Lys228Glu
ENST00000672805.1:c.*564A>G	ENSP00000500295.1:n.*564A>G
ENST00000672896.1:c.682A>G	ENSP00000500117.1:p.Lys228Glu
ENST00000673312.1:c.701A>G	ENSP00000500186.1:n.701A>G
ENST00000334961.11:c.433A>G	ENSP00000335652.7:p.Lys145Glu
ENST00000338641.8:c.682A>G	ENSP00000344666.4:p.Lys228Glu
ENST00000353887.8:c.433A>G	ENSP00000340626.4:p.Lys145Glu
ENST00000361166.8:c.682A>G	ENSP00000354529.4:p.Lys228Glu
ENST00000361452.8:c.559A>G	ENSP00000354897.4:p.Lys187Glu
ENST00000361676.8:c.556A>G	ENSP00000355183.4:p.Lys186Glu
ENST00000397789.3:c.682A>G	ENSP00000380891.3:p.Lys228Glu
ENST00000403435.5:c.682A>G	ENSP00000384029.1:p.Lys228Glu
ENST00000403999.7:c.682A>G	ENSP00000384797.3:p.Lys228Glu
ENST00000413209.6:c.447+18926A>G	ENSP00000409921.2:n.447+18926A>G
ENST00000432151.5:c.205A>G	ENSP00000395885.1:p.Lys69Glu
NM_000268.3:c.682A>G , LRG_511t1:c.682A>G	NP_000259.1:p.Lys228Glu
NM_016418.5:c.682A>G , LRG_511t2:c.682A>G	NP_057502.2:p.Lys228Glu
NM_181825.2:c.682A>G	NP_861546.1:p.Lys228Glu
NM_181828.2:c.556A>G	NP_861966.1:p.Lys186Glu
NM_181829.2:c.559A>G	NP_861967.1:p.Lys187Glu
NM_181830.2:c.433A>G	NP_861968.1:p.Lys145Glu
NM_181831.2:c.433A>G	NP_861969.1:p.Lys145Glu
NM_181832.2:c.682A>G	NP_861970.1:p.Lys228Glu
NM_181833.2:c.447+18926A>G	NP_861971.1:n.447+18926A>G
NR_156186.1:n.1241A>G
XM_017028809.2:c.568A>G	XP_016884298.1:p.Lys190Glu
XM_017028810.1:c.568A>G	XP_016884299.1:p.Lys190Glu
NM_000268.4:c.682A>G MANE Select	NP_000259.1:p.Lys228Glu
NM_181825.3:c.682A>G	NP_861546.1:p.Lys228Glu
NM_181828.3:c.556A>G	NP_861966.1:p.Lys186Glu
NM_181829.3:c.559A>G	NP_861967.1:p.Lys187Glu
NM_181830.3:c.433A>G	NP_861968.1:p.Lys145Glu
NM_181831.3:c.433A>G	NP_861969.1:p.Lys145Glu
NM_181832.3:c.682A>G	NP_861970.1:p.Lys228Glu
NR_156186.2:n.1164A>G
NM_181833.3:c.447+18926A>G	NP_861971.1:n.447+18926A>G