Canonical Allele Identifier: CA514181726

Gene: NF2

Linked Data

• ClinVar Variation Id: 1750657
• ClinVar RCV Id: RCV002355961 ; RCV003098075
• dbSNP Id: rs2146973926
• MyVariant Identifiers: chr22:g.30051660A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655671A>T , CM000684.2:g.29655671A>T	GRCh38
NC_000022.10:g.30051660A>T , CM000684.1:g.30051660A>T	GRCh37
NC_000022.9:g.28381660A>T	NCBI36
NG_009057.1:g.57116A>T , LRG_511:g.57116A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.594A>T	ENSP00000354529.6:p.Arg198=
ENST00000673312.2:c.*88A>T	ENSP00000500186.2:n.*88A>T
ENST00000338641.10:c.594A>T MANE Select	ENSP00000344666.5:p.Arg198=
ENST00000361166.9:c.147A>T	ENSP00000354529.5:p.Arg49=
ENST00000672461.1:c.594A>T	ENSP00000500919.1:p.Arg198=
ENST00000672805.1:c.*476A>T	ENSP00000500295.1:n.*476A>T
ENST00000672896.1:c.594A>T	ENSP00000500117.1:p.Arg198=
ENST00000673312.1:c.613A>T	ENSP00000500186.1:n.613A>T
ENST00000334961.11:c.345A>T	ENSP00000335652.7:p.Arg115=
ENST00000338641.8:c.594A>T	ENSP00000344666.4:p.Arg198=
ENST00000353887.8:c.345A>T	ENSP00000340626.4:p.Arg115=
ENST00000361166.8:c.594A>T	ENSP00000354529.4:p.Arg198=
ENST00000361452.8:c.471A>T	ENSP00000354897.4:p.Arg157=
ENST00000361676.8:c.468A>T	ENSP00000355183.4:p.Arg156=
ENST00000397789.3:c.594A>T	ENSP00000380891.3:p.Arg198=
ENST00000403435.5:c.594A>T	ENSP00000384029.1:p.Arg198=
ENST00000403999.7:c.594A>T	ENSP00000384797.3:p.Arg198=
ENST00000413209.6:c.447+13386A>T	ENSP00000409921.2:n.447+13386A>T
ENST00000432151.5:c.199-5534A>T	ENSP00000395885.1:n.199-5534A>T
NM_000268.3:c.594A>T , LRG_511t1:c.594A>T	NP_000259.1:p.Arg198=
NM_016418.5:c.594A>T , LRG_511t2:c.594A>T	NP_057502.2:p.Arg198=
NM_181825.2:c.594A>T	NP_861546.1:p.Arg198=
NM_181828.2:c.468A>T	NP_861966.1:p.Arg156=
NM_181829.2:c.471A>T	NP_861967.1:p.Arg157=
NM_181830.2:c.345A>T	NP_861968.1:p.Arg115=
NM_181831.2:c.345A>T	NP_861969.1:p.Arg115=
NM_181832.2:c.594A>T	NP_861970.1:p.Arg198=
NM_181833.2:c.447+13386A>T	NP_861971.1:n.447+13386A>T
NR_156186.1:n.1153A>T
XM_017028809.2:c.480A>T	XP_016884298.1:p.Arg160=
XM_017028810.1:c.480A>T	XP_016884299.1:p.Arg160=
NM_000268.4:c.594A>T MANE Select	NP_000259.1:p.Arg198=
NM_181825.3:c.594A>T	NP_861546.1:p.Arg198=
NM_181828.3:c.468A>T	NP_861966.1:p.Arg156=
NM_181829.3:c.471A>T	NP_861967.1:p.Arg157=
NM_181830.3:c.345A>T	NP_861968.1:p.Arg115=
NM_181831.3:c.345A>T	NP_861969.1:p.Arg115=
NM_181832.3:c.594A>T	NP_861970.1:p.Arg198=
NR_156186.2:n.1076A>T
NM_181833.3:c.447+13386A>T	NP_861971.1:n.447+13386A>T