Canonical Allele Identifier: CA411142552

Gene: NF2

Linked Data

• ClinVar Variation Id: 689695
• ClinVar RCV Id: RCV000850449
• dbSNP Id: rs1601613523
• MyVariant Identifiers: chr22:g.30051601A>G (hg19) ; chr22:g.29655612A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655612A>G , CM000684.2:g.29655612A>G	GRCh38
NC_000022.10:g.30051601A>G , CM000684.1:g.30051601A>G	GRCh37
NC_000022.9:g.28381601A>G	NCBI36
NG_009057.1:g.57057A>G , LRG_511:g.57057A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.535A>G	ENSP00000354529.6:p.Met179Val
ENST00000673312.2:c.*29A>G	ENSP00000500186.2:n.*29A>G
ENST00000338641.10:c.535A>G MANE Select	ENSP00000344666.5:p.Met179Val
ENST00000361166.9:c.88A>G	ENSP00000354529.5:p.Met30Val
ENST00000672461.1:c.535A>G	ENSP00000500919.1:p.Met179Val
ENST00000672805.1:c.*417A>G	ENSP00000500295.1:n.*417A>G
ENST00000672896.1:c.535A>G	ENSP00000500117.1:p.Met179Val
ENST00000673312.1:c.554A>G	ENSP00000500186.1:n.554A>G
ENST00000334961.11:c.286A>G	ENSP00000335652.7:p.Met96Val
ENST00000338641.8:c.535A>G	ENSP00000344666.4:p.Met179Val
ENST00000353887.8:c.286A>G	ENSP00000340626.4:p.Met96Val
ENST00000361166.8:c.535A>G	ENSP00000354529.4:p.Met179Val
ENST00000361452.8:c.412A>G	ENSP00000354897.4:p.Met138Val
ENST00000361676.8:c.409A>G	ENSP00000355183.4:p.Met137Val
ENST00000397789.3:c.535A>G	ENSP00000380891.3:p.Met179Val
ENST00000403435.5:c.535A>G	ENSP00000384029.1:p.Met179Val
ENST00000403999.7:c.535A>G	ENSP00000384797.3:p.Met179Val
ENST00000413209.6:c.447+13327A>G	ENSP00000409921.2:n.447+13327A>G
ENST00000432151.5:c.199-5593A>G	ENSP00000395885.1:n.199-5593A>G
NM_000268.3:c.535A>G , LRG_511t1:c.535A>G	NP_000259.1:p.Met179Val
NM_016418.5:c.535A>G , LRG_511t2:c.535A>G	NP_057502.2:p.Met179Val
NM_181825.2:c.535A>G	NP_861546.1:p.Met179Val
NM_181828.2:c.409A>G	NP_861966.1:p.Met137Val
NM_181829.2:c.412A>G	NP_861967.1:p.Met138Val
NM_181830.2:c.286A>G	NP_861968.1:p.Met96Val
NM_181831.2:c.286A>G	NP_861969.1:p.Met96Val
NM_181832.2:c.535A>G	NP_861970.1:p.Met179Val
NM_181833.2:c.447+13327A>G	NP_861971.1:n.447+13327A>G
NR_156186.1:n.1094A>G
XM_017028809.2:c.421A>G	XP_016884298.1:p.Met141Val
XM_017028810.1:c.421A>G	XP_016884299.1:p.Met141Val
NM_000268.4:c.535A>G MANE Select	NP_000259.1:p.Met179Val
NM_181825.3:c.535A>G	NP_861546.1:p.Met179Val
NM_181828.3:c.409A>G	NP_861966.1:p.Met137Val
NM_181829.3:c.412A>G	NP_861967.1:p.Met138Val
NM_181830.3:c.286A>G	NP_861968.1:p.Met96Val
NM_181831.3:c.286A>G	NP_861969.1:p.Met96Val
NM_181832.3:c.535A>G	NP_861970.1:p.Met179Val
NR_156186.2:n.1017A>G
NM_181833.3:c.447+13327A>G	NP_861971.1:n.447+13327A>G