Canonical Allele Identifier: CA411147068

Gene: NF2

Linked Data

• dbSNP Id: rs2147073352
• MyVariant Identifiers: chr22:g.30067901G>C (hg19) ; chr22:g.29671912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29671912G>C , CM000684.2:g.29671912G>C	GRCh38
NC_000022.10:g.30067901G>C , CM000684.1:g.30067901G>C	GRCh37
NC_000022.9:g.28397901G>C	NCBI36
NG_009057.1:g.73357G>C , LRG_511:g.73357G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.951G>C	ENSP00000354529.6:p.Gln317His
ENST00000673312.2:c.*580G>C	ENSP00000500186.2:n.*580G>C
ENST00000338641.10:c.1086G>C MANE Select	ENSP00000344666.5:p.Gln362His
ENST00000361166.9:c.504G>C	ENSP00000354529.5:p.Gln168His
ENST00000672461.1:c.1086G>C	ENSP00000500919.1:p.Gln362His
ENST00000672805.1:c.*968G>C	ENSP00000500295.1:n.*968G>C
ENST00000672896.1:c.1086G>C	ENSP00000500117.1:p.Gln362His
ENST00000673312.1:c.1105G>C	ENSP00000500186.1:n.1105G>C
ENST00000334961.11:c.837G>C	ENSP00000335652.7:p.Gln279His
ENST00000338641.8:c.1086G>C	ENSP00000344666.4:p.Gln362His
ENST00000353887.8:c.837G>C	ENSP00000340626.4:p.Gln279His
ENST00000361166.8:c.1086G>C	ENSP00000354529.4:p.Gln362His
ENST00000361452.8:c.963G>C	ENSP00000354897.4:p.Gln321His
ENST00000361676.8:c.960G>C	ENSP00000355183.4:p.Gln320His
ENST00000397789.3:c.1086G>C	ENSP00000380891.3:p.Gln362His
ENST00000403435.5:c.1000-1G>C	ENSP00000384029.1:n.1000-1G>C
ENST00000403999.7:c.1086G>C	ENSP00000384797.3:p.Gln362His
ENST00000413209.6:c.448-22840G>C	ENSP00000409921.2:n.448-22840G>C
ENST00000432151.5:c.523-2924G>C	ENSP00000395885.1:n.523-2924G>C
NM_000268.3:c.1086G>C , LRG_511t1:c.1086G>C	NP_000259.1:p.Gln362His
NM_016418.5:c.1086G>C , LRG_511t2:c.1086G>C	NP_057502.2:p.Gln362His
NM_181825.2:c.1086G>C	NP_861546.1:p.Gln362His
NM_181828.2:c.960G>C	NP_861966.1:p.Gln320His
NM_181829.2:c.963G>C	NP_861967.1:p.Gln321His
NM_181830.2:c.837G>C	NP_861968.1:p.Gln279His
NM_181831.2:c.837G>C	NP_861969.1:p.Gln279His
NM_181832.2:c.1086G>C	NP_861970.1:p.Gln362His
NM_181833.2:c.448-22840G>C	NP_861971.1:n.448-22840G>C
NR_156186.1:n.1645G>C
XM_017028809.2:c.972G>C	XP_016884298.1:p.Gln324His
XM_017028810.1:c.972G>C	XP_016884299.1:p.Gln324His
NM_000268.4:c.1086G>C MANE Select	NP_000259.1:p.Gln362His
NM_181825.3:c.1086G>C	NP_861546.1:p.Gln362His
NM_181828.3:c.960G>C	NP_861966.1:p.Gln320His
NM_181829.3:c.963G>C	NP_861967.1:p.Gln321His
NM_181830.3:c.837G>C	NP_861968.1:p.Gln279His
NM_181831.3:c.837G>C	NP_861969.1:p.Gln279His
NM_181832.3:c.1086G>C	NP_861970.1:p.Gln362His
NR_156186.2:n.1568G>C
NM_181833.3:c.448-22840G>C	NP_861971.1:n.448-22840G>C