Canonical Allele Identifier: CA514186758

Gene: NF2

Linked Data

• MyVariant Identifiers: chr22:g.30069461G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673472G>A , CM000684.2:g.29673472G>A	GRCh38
NC_000022.10:g.30069461G>A , CM000684.1:g.30069461G>A	GRCh37
NC_000022.9:g.28399461G>A	NCBI36
NG_009057.1:g.74917G>A , LRG_511:g.74917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1191G>A	ENSP00000354529.6:p.Glu397=
ENST00000673312.2:c.*820G>A	ENSP00000500186.2:n.*820G>A
ENST00000338641.10:c.1326G>A MANE Select	ENSP00000344666.5:p.Glu442=
ENST00000361166.9:c.744G>A	ENSP00000354529.5:p.Glu248=
ENST00000672461.1:c.1326G>A	ENSP00000500919.1:p.Glu442=
ENST00000672805.1:c.*1208G>A	ENSP00000500295.1:n.*1208G>A
ENST00000672896.1:c.1326G>A	ENSP00000500117.1:p.Glu442=
ENST00000673312.1:c.1345G>A	ENSP00000500186.1:n.1345G>A
ENST00000334961.11:c.1077G>A	ENSP00000335652.7:p.Glu359=
ENST00000338641.8:c.1326G>A	ENSP00000344666.4:p.Glu442=
ENST00000353887.8:c.1077G>A	ENSP00000340626.4:p.Glu359=
ENST00000361166.8:c.1326G>A	ENSP00000354529.4:p.Glu442=
ENST00000361452.8:c.1203G>A	ENSP00000354897.4:p.Glu401=
ENST00000361676.8:c.1200G>A	ENSP00000355183.4:p.Glu400=
ENST00000397789.3:c.1326G>A	ENSP00000380891.3:p.Glu442=
ENST00000403435.5:c.1239G>A	ENSP00000384029.1:p.Glu413=
ENST00000403999.7:c.1326G>A	ENSP00000384797.3:p.Glu442=
ENST00000413209.6:c.448-21280G>A	ENSP00000409921.2:n.448-21280G>A
ENST00000432151.5:c.523-1364G>A	ENSP00000395885.1:n.523-1364G>A
NM_000268.3:c.1326G>A , LRG_511t1:c.1326G>A	NP_000259.1:p.Glu442=
NM_016418.5:c.1326G>A , LRG_511t2:c.1326G>A	NP_057502.2:p.Glu442=
NM_181825.2:c.1326G>A	NP_861546.1:p.Glu442=
NM_181828.2:c.1200G>A	NP_861966.1:p.Glu400=
NM_181829.2:c.1203G>A	NP_861967.1:p.Glu401=
NM_181830.2:c.1077G>A	NP_861968.1:p.Glu359=
NM_181831.2:c.1077G>A	NP_861969.1:p.Glu359=
NM_181832.2:c.1326G>A	NP_861970.1:p.Glu442=
NM_181833.2:c.448-21280G>A	NP_861971.1:n.448-21280G>A
NR_156186.1:n.1885G>A
XM_017028809.2:c.1212G>A	XP_016884298.1:p.Glu404=
XM_017028810.1:c.1212G>A	XP_016884299.1:p.Glu404=
NM_000268.4:c.1326G>A MANE Select	NP_000259.1:p.Glu442=
NM_181825.3:c.1326G>A	NP_861546.1:p.Glu442=
NM_181828.3:c.1200G>A	NP_861966.1:p.Glu400=
NM_181829.3:c.1203G>A	NP_861967.1:p.Glu401=
NM_181830.3:c.1077G>A	NP_861968.1:p.Glu359=
NM_181831.3:c.1077G>A	NP_861969.1:p.Glu359=
NM_181832.3:c.1326G>A	NP_861970.1:p.Glu442=
NR_156186.2:n.1808G>A
NM_181833.3:c.448-21280G>A	NP_861971.1:n.448-21280G>A