Canonical Allele Identifier: CA411144118

Gene: NF2

Linked Data

• dbSNP Id: rs1255835564
• gnomAD v3: 22-29661319-A-G
• gnomAD v4: 22-29661319-A-G
• MyVariant Identifiers: chr22:g.30057308A>G (hg19) ; chr22:g.29661319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661319A>G , CM000684.2:g.29661319A>G	GRCh38
NC_000022.10:g.30057308A>G , CM000684.1:g.30057308A>G	GRCh37
NC_000022.9:g.28387308A>G	NCBI36
NG_009057.1:g.62764A>G , LRG_511:g.62764A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+3055A>G	ENSP00000354529.6:n.675+3055A>G
ENST00000673312.2:c.*284A>G	ENSP00000500186.2:n.*284A>G
ENST00000338641.10:c.790A>G MANE Select	ENSP00000344666.5:p.Ile264Val
ENST00000361166.9:c.228+3055A>G	ENSP00000354529.5:n.228+3055A>G
ENST00000672461.1:c.790A>G	ENSP00000500919.1:p.Ile264Val
ENST00000672805.1:c.*672A>G	ENSP00000500295.1:n.*672A>G
ENST00000672896.1:c.790A>G	ENSP00000500117.1:p.Ile264Val
ENST00000673312.1:c.809A>G	ENSP00000500186.1:n.809A>G
ENST00000334961.11:c.541A>G	ENSP00000335652.7:p.Ile181Val
ENST00000338641.8:c.790A>G	ENSP00000344666.4:p.Ile264Val
ENST00000353887.8:c.541A>G	ENSP00000340626.4:p.Ile181Val
ENST00000361166.8:c.790A>G	ENSP00000354529.4:p.Ile264Val
ENST00000361452.8:c.667A>G	ENSP00000354897.4:p.Ile223Val
ENST00000361676.8:c.664A>G	ENSP00000355183.4:p.Ile222Val
ENST00000397789.3:c.790A>G	ENSP00000380891.3:p.Ile264Val
ENST00000403435.5:c.790A>G	ENSP00000384029.1:p.Ile264Val
ENST00000403999.7:c.790A>G	ENSP00000384797.3:p.Ile264Val
ENST00000413209.6:c.447+19034A>G	ENSP00000409921.2:n.447+19034A>G
ENST00000432151.5:c.313A>G	ENSP00000395885.1:p.Ile105Val
NM_000268.3:c.790A>G , LRG_511t1:c.790A>G	NP_000259.1:p.Ile264Val
NM_016418.5:c.790A>G , LRG_511t2:c.790A>G	NP_057502.2:p.Ile264Val
NM_181825.2:c.790A>G	NP_861546.1:p.Ile264Val
NM_181828.2:c.664A>G	NP_861966.1:p.Ile222Val
NM_181829.2:c.667A>G	NP_861967.1:p.Ile223Val
NM_181830.2:c.541A>G	NP_861968.1:p.Ile181Val
NM_181831.2:c.541A>G	NP_861969.1:p.Ile181Val
NM_181832.2:c.790A>G	NP_861970.1:p.Ile264Val
NM_181833.2:c.447+19034A>G	NP_861971.1:n.447+19034A>G
NR_156186.1:n.1349A>G
XM_017028809.2:c.676A>G	XP_016884298.1:p.Ile226Val
XM_017028810.1:c.676A>G	XP_016884299.1:p.Ile226Val
NM_000268.4:c.790A>G MANE Select	NP_000259.1:p.Ile264Val
NM_181825.3:c.790A>G	NP_861546.1:p.Ile264Val
NM_181828.3:c.664A>G	NP_861966.1:p.Ile222Val
NM_181829.3:c.667A>G	NP_861967.1:p.Ile223Val
NM_181830.3:c.541A>G	NP_861968.1:p.Ile181Val
NM_181831.3:c.541A>G	NP_861969.1:p.Ile181Val
NM_181832.3:c.790A>G	NP_861970.1:p.Ile264Val
NR_156186.2:n.1272A>G
NM_181833.3:c.447+19034A>G	NP_861971.1:n.447+19034A>G