Canonical Allele Identifier: CA514188692

Gene: NF2

Linked Data

• MyVariant Identifiers: chr22:g.30074223A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678234A>T , CM000684.2:g.29678234A>T	GRCh38
NC_000022.10:g.30074223A>T , CM000684.1:g.30074223A>T	GRCh37
NC_000022.9:g.28404223A>T	NCBI36
NG_009057.1:g.79679A>T , LRG_511:g.79679A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1350A>T	ENSP00000354529.6:p.Ile450=
ENST00000673312.2:c.*979A>T	ENSP00000500186.2:n.*979A>T
ENST00000338641.10:c.1485A>T MANE Select	ENSP00000344666.5:p.Ile495=
ENST00000361166.9:c.903A>T	ENSP00000354529.5:p.Ile301=
ENST00000672461.1:c.1485A>T	ENSP00000500919.1:p.Ile495=
ENST00000672805.1:c.*1367A>T	ENSP00000500295.1:n.*1367A>T
ENST00000672896.1:c.1485A>T	ENSP00000500117.1:p.Ile495=
ENST00000673312.1:c.1504A>T	ENSP00000500186.1:n.1504A>T
ENST00000334961.11:c.1236A>T	ENSP00000335652.7:p.Ile412=
ENST00000338641.8:c.1485A>T	ENSP00000344666.4:p.Ile495=
ENST00000353887.8:c.1236A>T	ENSP00000340626.4:p.Ile412=
ENST00000361166.8:c.1485A>T	ENSP00000354529.4:p.Ile495=
ENST00000361452.8:c.1362A>T	ENSP00000354897.4:p.Ile454=
ENST00000361676.8:c.1359A>T	ENSP00000355183.4:p.Ile453=
ENST00000397789.3:c.1485A>T	ENSP00000380891.3:p.Ile495=
ENST00000403435.5:c.1398A>T	ENSP00000384029.1:p.Ile466=
ENST00000403999.7:c.1485A>T	ENSP00000384797.3:p.Ile495=
ENST00000413209.6:c.448-16518A>T	ENSP00000409921.2:n.448-16518A>T
ENST00000432151.5:c.*4A>T	ENSP00000395885.1:n.*4A>T
NM_000268.3:c.1485A>T , LRG_511t1:c.1485A>T	NP_000259.1:p.Ile495=
NM_016418.5:c.1485A>T , LRG_511t2:c.1485A>T	NP_057502.2:p.Ile495=
NM_181825.2:c.1485A>T	NP_861546.1:p.Ile495=
NM_181828.2:c.1359A>T	NP_861966.1:p.Ile453=
NM_181829.2:c.1362A>T	NP_861967.1:p.Ile454=
NM_181830.2:c.1236A>T	NP_861968.1:p.Ile412=
NM_181831.2:c.1236A>T	NP_861969.1:p.Ile412=
NM_181832.2:c.1485A>T	NP_861970.1:p.Ile495=
NM_181833.2:c.448-16518A>T	NP_861971.1:n.448-16518A>T
NR_156186.1:n.2044A>T
XM_017028809.2:c.1371A>T	XP_016884298.1:p.Ile457=
XM_017028810.1:c.1371A>T	XP_016884299.1:p.Ile457=
NM_000268.4:c.1485A>T MANE Select	NP_000259.1:p.Ile495=
NM_181825.3:c.1485A>T	NP_861546.1:p.Ile495=
NM_181828.3:c.1359A>T	NP_861966.1:p.Ile453=
NM_181829.3:c.1362A>T	NP_861967.1:p.Ile454=
NM_181830.3:c.1236A>T	NP_861968.1:p.Ile412=
NM_181831.3:c.1236A>T	NP_861969.1:p.Ile412=
NM_181832.3:c.1485A>T	NP_861970.1:p.Ile495=
NR_156186.2:n.1967A>T
NM_181833.3:c.448-16518A>T	NP_861971.1:n.448-16518A>T