Canonical Allele Identifier: CA411145802

Gene: NF2

Linked Data

• ClinVar Variation Id: 1457608
• ClinVar RCV Id: RCV001949289
• dbSNP Id: rs2147052253
• MyVariant Identifiers: chr22:g.30064370A>T (hg19) ; chr22:g.29668381A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29668381A>T , CM000684.2:g.29668381A>T	GRCh38
NC_000022.10:g.30064370A>T , CM000684.1:g.30064370A>T	GRCh37
NC_000022.9:g.28394370A>T	NCBI36
NG_009057.1:g.69826A>T , LRG_511:g.69826A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.799A>T	ENSP00000354529.6:p.Lys267Ter
ENST00000673312.2:c.*428A>T	ENSP00000500186.2:n.*428A>T
ENST00000338641.10:c.934A>T MANE Select	ENSP00000344666.5:p.Lys312Ter
ENST00000361166.9:c.352A>T	ENSP00000354529.5:p.Lys118Ter
ENST00000672461.1:c.934A>T	ENSP00000500919.1:p.Lys312Ter
ENST00000672805.1:c.*816A>T	ENSP00000500295.1:n.*816A>T
ENST00000672896.1:c.934A>T	ENSP00000500117.1:p.Lys312Ter
ENST00000673312.1:c.953A>T	ENSP00000500186.1:n.953A>T
ENST00000334961.11:c.685A>T	ENSP00000335652.7:p.Lys229Ter
ENST00000338641.8:c.934A>T	ENSP00000344666.4:p.Lys312Ter
ENST00000353887.8:c.685A>T	ENSP00000340626.4:p.Lys229Ter
ENST00000361166.8:c.934A>T	ENSP00000354529.4:p.Lys312Ter
ENST00000361452.8:c.811A>T	ENSP00000354897.4:p.Lys271Ter
ENST00000361676.8:c.808A>T	ENSP00000355183.4:p.Lys270Ter
ENST00000397789.3:c.934A>T	ENSP00000380891.3:p.Lys312Ter
ENST00000403435.5:c.934A>T	ENSP00000384029.1:p.Lys312Ter
ENST00000403999.7:c.934A>T	ENSP00000384797.3:p.Lys312Ter
ENST00000413209.6:c.447+26096A>T	ENSP00000409921.2:n.447+26096A>T
ENST00000432151.5:c.457A>T	ENSP00000395885.1:p.Lys153Ter
NM_000268.3:c.934A>T , LRG_511t1:c.934A>T	NP_000259.1:p.Lys312Ter
NM_016418.5:c.934A>T , LRG_511t2:c.934A>T	NP_057502.2:p.Lys312Ter
NM_181825.2:c.934A>T	NP_861546.1:p.Lys312Ter
NM_181828.2:c.808A>T	NP_861966.1:p.Lys270Ter
NM_181829.2:c.811A>T	NP_861967.1:p.Lys271Ter
NM_181830.2:c.685A>T	NP_861968.1:p.Lys229Ter
NM_181831.2:c.685A>T	NP_861969.1:p.Lys229Ter
NM_181832.2:c.934A>T	NP_861970.1:p.Lys312Ter
NM_181833.2:c.447+26096A>T	NP_861971.1:n.447+26096A>T
NR_156186.1:n.1493A>T
XM_017028809.2:c.820A>T	XP_016884298.1:p.Lys274Ter
XM_017028810.1:c.820A>T	XP_016884299.1:p.Lys274Ter
NM_000268.4:c.934A>T MANE Select	NP_000259.1:p.Lys312Ter
NM_181825.3:c.934A>T	NP_861546.1:p.Lys312Ter
NM_181828.3:c.808A>T	NP_861966.1:p.Lys270Ter
NM_181829.3:c.811A>T	NP_861967.1:p.Lys271Ter
NM_181830.3:c.685A>T	NP_861968.1:p.Lys229Ter
NM_181831.3:c.685A>T	NP_861969.1:p.Lys229Ter
NM_181832.3:c.934A>T	NP_861970.1:p.Lys312Ter
NR_156186.2:n.1416A>T
NM_181833.3:c.447+26096A>T	NP_861971.1:n.447+26096A>T