Canonical Allele Identifier: CA411144128

Gene: NF2

Linked Data

• gnomAD v4: 22-29661320-T-G
• MyVariant Identifiers: chr22:g.30057309T>G (hg19) ; chr22:g.29661320T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661320T>G , CM000684.2:g.29661320T>G	GRCh38
NC_000022.10:g.30057309T>G , CM000684.1:g.30057309T>G	GRCh37
NC_000022.9:g.28387309T>G	NCBI36
NG_009057.1:g.62765T>G , LRG_511:g.62765T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+3056T>G	ENSP00000354529.6:n.675+3056T>G
ENST00000673312.2:c.*285T>G	ENSP00000500186.2:n.*285T>G
ENST00000338641.10:c.791T>G MANE Select	ENSP00000344666.5:p.Ile264Ser
ENST00000361166.9:c.228+3056T>G	ENSP00000354529.5:n.228+3056T>G
ENST00000672461.1:c.791T>G	ENSP00000500919.1:p.Ile264Ser
ENST00000672805.1:c.*673T>G	ENSP00000500295.1:n.*673T>G
ENST00000672896.1:c.791T>G	ENSP00000500117.1:p.Ile264Ser
ENST00000673312.1:c.810T>G	ENSP00000500186.1:n.810T>G
ENST00000334961.11:c.542T>G	ENSP00000335652.7:p.Ile181Ser
ENST00000338641.8:c.791T>G	ENSP00000344666.4:p.Ile264Ser
ENST00000353887.8:c.542T>G	ENSP00000340626.4:p.Ile181Ser
ENST00000361166.8:c.791T>G	ENSP00000354529.4:p.Ile264Ser
ENST00000361452.8:c.668T>G	ENSP00000354897.4:p.Ile223Ser
ENST00000361676.8:c.665T>G	ENSP00000355183.4:p.Ile222Ser
ENST00000397789.3:c.791T>G	ENSP00000380891.3:p.Ile264Ser
ENST00000403435.5:c.791T>G	ENSP00000384029.1:p.Ile264Ser
ENST00000403999.7:c.791T>G	ENSP00000384797.3:p.Ile264Ser
ENST00000413209.6:c.447+19035T>G	ENSP00000409921.2:n.447+19035T>G
ENST00000432151.5:c.314T>G	ENSP00000395885.1:p.Ile105Ser
NM_000268.3:c.791T>G , LRG_511t1:c.791T>G	NP_000259.1:p.Ile264Ser
NM_016418.5:c.791T>G , LRG_511t2:c.791T>G	NP_057502.2:p.Ile264Ser
NM_181825.2:c.791T>G	NP_861546.1:p.Ile264Ser
NM_181828.2:c.665T>G	NP_861966.1:p.Ile222Ser
NM_181829.2:c.668T>G	NP_861967.1:p.Ile223Ser
NM_181830.2:c.542T>G	NP_861968.1:p.Ile181Ser
NM_181831.2:c.542T>G	NP_861969.1:p.Ile181Ser
NM_181832.2:c.791T>G	NP_861970.1:p.Ile264Ser
NM_181833.2:c.447+19035T>G	NP_861971.1:n.447+19035T>G
NR_156186.1:n.1350T>G
XM_017028809.2:c.677T>G	XP_016884298.1:p.Ile226Ser
XM_017028810.1:c.677T>G	XP_016884299.1:p.Ile226Ser
NM_000268.4:c.791T>G MANE Select	NP_000259.1:p.Ile264Ser
NM_181825.3:c.791T>G	NP_861546.1:p.Ile264Ser
NM_181828.3:c.665T>G	NP_861966.1:p.Ile222Ser
NM_181829.3:c.668T>G	NP_861967.1:p.Ile223Ser
NM_181830.3:c.542T>G	NP_861968.1:p.Ile181Ser
NM_181831.3:c.542T>G	NP_861969.1:p.Ile181Ser
NM_181832.3:c.791T>G	NP_861970.1:p.Ile264Ser
NR_156186.2:n.1273T>G
NM_181833.3:c.447+19035T>G	NP_861971.1:n.447+19035T>G