Canonical Allele Identifier: CA411142653

Gene: NF2

Linked Data

• ClinVar Variation Id: 1749520
• ClinVar RCV Id: RCV002359628
• dbSNP Id: rs149803133
• MyVariant Identifiers: chr22:g.30051642C>A (hg19) ; chr22:g.29655653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655653C>A , CM000684.2:g.29655653C>A	GRCh38
NC_000022.10:g.30051642C>A , CM000684.1:g.30051642C>A	GRCh37
NC_000022.9:g.28381642C>A	NCBI36
NG_009057.1:g.57098C>A , LRG_511:g.57098C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.576C>A	ENSP00000354529.6:p.Tyr192Ter
ENST00000673312.2:c.*70C>A	ENSP00000500186.2:n.*70C>A
ENST00000338641.10:c.576C>A MANE Select	ENSP00000344666.5:p.Tyr192Ter
ENST00000361166.9:c.129C>A	ENSP00000354529.5:p.Tyr43Ter
ENST00000672461.1:c.576C>A	ENSP00000500919.1:p.Tyr192Ter
ENST00000672805.1:c.*458C>A	ENSP00000500295.1:n.*458C>A
ENST00000672896.1:c.576C>A	ENSP00000500117.1:p.Tyr192Ter
ENST00000673312.1:c.595C>A	ENSP00000500186.1:n.595C>A
ENST00000334961.11:c.327C>A	ENSP00000335652.7:p.Tyr109Ter
ENST00000338641.8:c.576C>A	ENSP00000344666.4:p.Tyr192Ter
ENST00000353887.8:c.327C>A	ENSP00000340626.4:p.Tyr109Ter
ENST00000361166.8:c.576C>A	ENSP00000354529.4:p.Tyr192Ter
ENST00000361452.8:c.453C>A	ENSP00000354897.4:p.Tyr151Ter
ENST00000361676.8:c.450C>A	ENSP00000355183.4:p.Tyr150Ter
ENST00000397789.3:c.576C>A	ENSP00000380891.3:p.Tyr192Ter
ENST00000403435.5:c.576C>A	ENSP00000384029.1:p.Tyr192Ter
ENST00000403999.7:c.576C>A	ENSP00000384797.3:p.Tyr192Ter
ENST00000413209.6:c.447+13368C>A	ENSP00000409921.2:n.447+13368C>A
ENST00000432151.5:c.199-5552C>A	ENSP00000395885.1:n.199-5552C>A
NM_000268.3:c.576C>A , LRG_511t1:c.576C>A	NP_000259.1:p.Tyr192Ter
NM_016418.5:c.576C>A , LRG_511t2:c.576C>A	NP_057502.2:p.Tyr192Ter
NM_181825.2:c.576C>A	NP_861546.1:p.Tyr192Ter
NM_181828.2:c.450C>A	NP_861966.1:p.Tyr150Ter
NM_181829.2:c.453C>A	NP_861967.1:p.Tyr151Ter
NM_181830.2:c.327C>A	NP_861968.1:p.Tyr109Ter
NM_181831.2:c.327C>A	NP_861969.1:p.Tyr109Ter
NM_181832.2:c.576C>A	NP_861970.1:p.Tyr192Ter
NM_181833.2:c.447+13368C>A	NP_861971.1:n.447+13368C>A
NR_156186.1:n.1135C>A
XM_017028809.2:c.462C>A	XP_016884298.1:p.Tyr154Ter
XM_017028810.1:c.462C>A	XP_016884299.1:p.Tyr154Ter
NM_000268.4:c.576C>A MANE Select	NP_000259.1:p.Tyr192Ter
NM_181825.3:c.576C>A	NP_861546.1:p.Tyr192Ter
NM_181828.3:c.450C>A	NP_861966.1:p.Tyr150Ter
NM_181829.3:c.453C>A	NP_861967.1:p.Tyr151Ter
NM_181830.3:c.327C>A	NP_861968.1:p.Tyr109Ter
NM_181831.3:c.327C>A	NP_861969.1:p.Tyr109Ter
NM_181832.3:c.576C>A	NP_861970.1:p.Tyr192Ter
NR_156186.2:n.1058C>A
NM_181833.3:c.447+13368C>A	NP_861971.1:n.447+13368C>A