Canonical Allele Identifier: CA036618

Gene: NF2

Linked Data

• ClinVar Variation Id: 527708
• ClinVar RCV Id: RCV000632653 ; RCV001009686
• dbSNP Id: rs780430071
• ExAC: 22:30067833 G / A
• gnomAD v2: 22-30067833-G-A
• gnomAD v3: 22-29671844-G-A
• gnomAD v4: 22-29671844-G-A
• MyVariant Identifiers: chr22:g.30067833G>A (hg19) ; chr22:g.29671844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29671844G>A , CM000684.2:g.29671844G>A	GRCh38
NC_000022.10:g.30067833G>A , CM000684.1:g.30067833G>A	GRCh37
NC_000022.9:g.28397833G>A	NCBI36
NG_009057.1:g.73289G>A , LRG_511:g.73289G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.883G>A	ENSP00000354529.6:p.Ala295Thr
ENST00000673312.2:c.*512G>A	ENSP00000500186.2:n.*512G>A
ENST00000338641.10:c.1018G>A MANE Select	ENSP00000344666.5:p.Ala340Thr
ENST00000361166.9:c.436G>A	ENSP00000354529.5:p.Ala146Thr
ENST00000672461.1:c.1018G>A	ENSP00000500919.1:p.Ala340Thr
ENST00000672805.1:c.*900G>A	ENSP00000500295.1:n.*900G>A
ENST00000672896.1:c.1018G>A	ENSP00000500117.1:p.Ala340Thr
ENST00000673312.1:c.1037G>A	ENSP00000500186.1:n.1037G>A
ENST00000334961.11:c.769G>A	ENSP00000335652.7:p.Ala257Thr
ENST00000338641.8:c.1018G>A	ENSP00000344666.4:p.Ala340Thr
ENST00000353887.8:c.769G>A	ENSP00000340626.4:p.Ala257Thr
ENST00000361166.8:c.1018G>A	ENSP00000354529.4:p.Ala340Thr
ENST00000361452.8:c.895G>A	ENSP00000354897.4:p.Ala299Thr
ENST00000361676.8:c.892G>A	ENSP00000355183.4:p.Ala298Thr
ENST00000397789.3:c.1018G>A	ENSP00000380891.3:p.Ala340Thr
ENST00000403435.5:c.1000-69G>A	ENSP00000384029.1:n.1000-69G>A
ENST00000403999.7:c.1018G>A	ENSP00000384797.3:p.Ala340Thr
ENST00000413209.6:c.448-22908G>A	ENSP00000409921.2:n.448-22908G>A
ENST00000432151.5:c.523-2992G>A	ENSP00000395885.1:n.523-2992G>A
NM_000268.3:c.1018G>A , LRG_511t1:c.1018G>A	NP_000259.1:p.Ala340Thr
NM_016418.5:c.1018G>A , LRG_511t2:c.1018G>A	NP_057502.2:p.Ala340Thr
NM_181825.2:c.1018G>A	NP_861546.1:p.Ala340Thr
NM_181828.2:c.892G>A	NP_861966.1:p.Ala298Thr
NM_181829.2:c.895G>A	NP_861967.1:p.Ala299Thr
NM_181830.2:c.769G>A	NP_861968.1:p.Ala257Thr
NM_181831.2:c.769G>A	NP_861969.1:p.Ala257Thr
NM_181832.2:c.1018G>A	NP_861970.1:p.Ala340Thr
NM_181833.2:c.448-22908G>A	NP_861971.1:n.448-22908G>A
NR_156186.1:n.1577G>A
XM_017028809.2:c.904G>A	XP_016884298.1:p.Ala302Thr
XM_017028810.1:c.904G>A	XP_016884299.1:p.Ala302Thr
NM_000268.4:c.1018G>A MANE Select	NP_000259.1:p.Ala340Thr
NM_181825.3:c.1018G>A	NP_861546.1:p.Ala340Thr
NM_181828.3:c.892G>A	NP_861966.1:p.Ala298Thr
NM_181829.3:c.895G>A	NP_861967.1:p.Ala299Thr
NM_181830.3:c.769G>A	NP_861968.1:p.Ala257Thr
NM_181831.3:c.769G>A	NP_861969.1:p.Ala257Thr
NM_181832.3:c.1018G>A	NP_861970.1:p.Ala340Thr
NR_156186.2:n.1500G>A
NM_181833.3:c.448-22908G>A	NP_861971.1:n.448-22908G>A