Canonical Allele Identifier: CA411142212

Gene: NF2

Linked Data

• MyVariant Identifiers: chr22:g.30050693A>C (hg19) ; chr22:g.29654704A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654704A>C , CM000684.2:g.29654704A>C	GRCh38
NC_000022.10:g.30050693A>C , CM000684.1:g.30050693A>C	GRCh37
NC_000022.9:g.28380693A>C	NCBI36
NG_009057.1:g.56149A>C , LRG_511:g.56149A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.495A>C	ENSP00000354529.6:p.Gln165His
ENST00000673312.2:c.495A>C	ENSP00000500186.2:p.Gln165His
ENST00000338641.10:c.495A>C MANE Select	ENSP00000344666.5:p.Gln165His
ENST00000361166.9:c.48A>C	ENSP00000354529.5:p.Gln16His
ENST00000672461.1:c.495A>C	ENSP00000500919.1:p.Gln165His
ENST00000672805.1:c.*377A>C	ENSP00000500295.1:n.*377A>C
ENST00000672896.1:c.495A>C	ENSP00000500117.1:p.Gln165His
ENST00000673312.1:c.408A>C	ENSP00000500186.1:p.Gln136His
ENST00000334961.11:c.246A>C	ENSP00000335652.7:p.Gln82His
ENST00000338641.8:c.495A>C	ENSP00000344666.4:p.Gln165His
ENST00000353887.8:c.246A>C	ENSP00000340626.4:p.Gln82His
ENST00000361166.8:c.495A>C	ENSP00000354529.4:p.Gln165His
ENST00000361452.8:c.372A>C	ENSP00000354897.4:p.Gln124His
ENST00000361676.8:c.369A>C	ENSP00000355183.4:p.Gln123His
ENST00000397789.3:c.495A>C	ENSP00000380891.3:p.Gln165His
ENST00000403435.5:c.495A>C	ENSP00000384029.1:p.Gln165His
ENST00000403999.7:c.495A>C	ENSP00000384797.3:p.Gln165His
ENST00000413209.6:c.447+12419A>C	ENSP00000409921.2:n.447+12419A>C
ENST00000432151.5:c.199-6501A>C	ENSP00000395885.1:n.199-6501A>C
NM_000268.3:c.495A>C , LRG_511t1:c.495A>C	NP_000259.1:p.Gln165His
NM_016418.5:c.495A>C , LRG_511t2:c.495A>C	NP_057502.2:p.Gln165His
NM_181825.2:c.495A>C	NP_861546.1:p.Gln165His
NM_181828.2:c.369A>C	NP_861966.1:p.Gln123His
NM_181829.2:c.372A>C	NP_861967.1:p.Gln124His
NM_181830.2:c.246A>C	NP_861968.1:p.Gln82His
NM_181831.2:c.246A>C	NP_861969.1:p.Gln82His
NM_181832.2:c.495A>C	NP_861970.1:p.Gln165His
NM_181833.2:c.447+12419A>C	NP_861971.1:n.447+12419A>C
NR_156186.1:n.1054A>C
XM_017028809.2:c.381A>C	XP_016884298.1:p.Gln127His
XM_017028810.1:c.381A>C	XP_016884299.1:p.Gln127His
NM_000268.4:c.495A>C MANE Select	NP_000259.1:p.Gln165His
NM_181825.3:c.495A>C	NP_861546.1:p.Gln165His
NM_181828.3:c.369A>C	NP_861966.1:p.Gln123His
NM_181829.3:c.372A>C	NP_861967.1:p.Gln124His
NM_181830.3:c.246A>C	NP_861968.1:p.Gln82His
NM_181831.3:c.246A>C	NP_861969.1:p.Gln82His
NM_181832.3:c.495A>C	NP_861970.1:p.Gln165His
NR_156186.2:n.977A>C
NM_181833.3:c.447+12419A>C	NP_861971.1:n.447+12419A>C