Canonical Allele Identifier: CA411146005

Gene: NF2

Linked Data

• dbSNP Id: rs1317525094
• gnomAD v2: 22-30064404-C-T
• gnomAD v4: 22-29668415-C-T
• COSMIC: COSM4706560 ; COSM4706561
• MyVariant Identifiers: chr22:g.30064404C>T (hg19) ; chr22:g.29668415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29668415C>T , CM000684.2:g.29668415C>T	GRCh38
NC_000022.10:g.30064404C>T , CM000684.1:g.30064404C>T	GRCh37
NC_000022.9:g.28394404C>T	NCBI36
NG_009057.1:g.69860C>T , LRG_511:g.69860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.833C>T	ENSP00000354529.6:p.Ala278Val
ENST00000673312.2:c.*462C>T	ENSP00000500186.2:n.*462C>T
ENST00000338641.10:c.968C>T MANE Select	ENSP00000344666.5:p.Ala323Val
ENST00000361166.9:c.386C>T	ENSP00000354529.5:p.Ala129Val
ENST00000672461.1:c.968C>T	ENSP00000500919.1:p.Ala323Val
ENST00000672805.1:c.*850C>T	ENSP00000500295.1:n.*850C>T
ENST00000672896.1:c.968C>T	ENSP00000500117.1:p.Ala323Val
ENST00000673312.1:c.987C>T	ENSP00000500186.1:n.987C>T
ENST00000334961.11:c.719C>T	ENSP00000335652.7:p.Ala240Val
ENST00000338641.8:c.968C>T	ENSP00000344666.4:p.Ala323Val
ENST00000353887.8:c.719C>T	ENSP00000340626.4:p.Ala240Val
ENST00000361166.8:c.968C>T	ENSP00000354529.4:p.Ala323Val
ENST00000361452.8:c.845C>T	ENSP00000354897.4:p.Ala282Val
ENST00000361676.8:c.842C>T	ENSP00000355183.4:p.Ala281Val
ENST00000397789.3:c.968C>T	ENSP00000380891.3:p.Ala323Val
ENST00000403435.5:c.968C>T	ENSP00000384029.1:p.Ala323Val
ENST00000403999.7:c.968C>T	ENSP00000384797.3:p.Ala323Val
ENST00000413209.6:c.447+26130C>T	ENSP00000409921.2:n.447+26130C>T
ENST00000432151.5:c.491C>T	ENSP00000395885.1:p.Ala164Val
NM_000268.3:c.968C>T , LRG_511t1:c.968C>T	NP_000259.1:p.Ala323Val
NM_016418.5:c.968C>T , LRG_511t2:c.968C>T	NP_057502.2:p.Ala323Val
NM_181825.2:c.968C>T	NP_861546.1:p.Ala323Val
NM_181828.2:c.842C>T	NP_861966.1:p.Ala281Val
NM_181829.2:c.845C>T	NP_861967.1:p.Ala282Val
NM_181830.2:c.719C>T	NP_861968.1:p.Ala240Val
NM_181831.2:c.719C>T	NP_861969.1:p.Ala240Val
NM_181832.2:c.968C>T	NP_861970.1:p.Ala323Val
NM_181833.2:c.447+26130C>T	NP_861971.1:n.447+26130C>T
NR_156186.1:n.1527C>T
XM_017028809.2:c.854C>T	XP_016884298.1:p.Ala285Val
XM_017028810.1:c.854C>T	XP_016884299.1:p.Ala285Val
NM_000268.4:c.968C>T MANE Select	NP_000259.1:p.Ala323Val
NM_181825.3:c.968C>T	NP_861546.1:p.Ala323Val
NM_181828.3:c.842C>T	NP_861966.1:p.Ala281Val
NM_181829.3:c.845C>T	NP_861967.1:p.Ala282Val
NM_181830.3:c.719C>T	NP_861968.1:p.Ala240Val
NM_181831.3:c.719C>T	NP_861969.1:p.Ala240Val
NM_181832.3:c.968C>T	NP_861970.1:p.Ala323Val
NR_156186.2:n.1450C>T
NM_181833.3:c.447+26130C>T	NP_861971.1:n.447+26130C>T