Canonical Allele Identifier: CA411149762

Gene: NF2

Linked Data

• ClinVar Variation Id: 547709
• ClinVar RCV Id: RCV000660136 ; RCV001567642 ; RCV002397341
• dbSNP Id: rs1556002568
• MyVariant Identifiers: chr22:g.30074288T>C (hg19) ; chr22:g.29678299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678299T>C , CM000684.2:g.29678299T>C	GRCh38
NC_000022.10:g.30074288T>C , CM000684.1:g.30074288T>C	GRCh37
NC_000022.9:g.28404288T>C	NCBI36
NG_009057.1:g.79744T>C , LRG_511:g.79744T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1415T>C	ENSP00000354529.6:p.Leu472Pro
ENST00000673312.2:c.*1044T>C	ENSP00000500186.2:n.*1044T>C
ENST00000338641.10:c.1550T>C MANE Select	ENSP00000344666.5:p.Leu517Pro
ENST00000361166.9:c.968T>C	ENSP00000354529.5:p.Leu323Pro
ENST00000672461.1:c.1550T>C	ENSP00000500919.1:p.Leu517Pro
ENST00000672805.1:c.*1432T>C	ENSP00000500295.1:n.*1432T>C
ENST00000672896.1:c.1550T>C	ENSP00000500117.1:p.Leu517Pro
ENST00000673312.1:c.1569T>C	ENSP00000500186.1:n.1569T>C
ENST00000334961.11:c.1301T>C	ENSP00000335652.7:p.Leu434Pro
ENST00000338641.8:c.1550T>C	ENSP00000344666.4:p.Leu517Pro
ENST00000353887.8:c.1301T>C	ENSP00000340626.4:p.Leu434Pro
ENST00000361166.8:c.1550T>C	ENSP00000354529.4:p.Leu517Pro
ENST00000361452.8:c.1427T>C	ENSP00000354897.4:p.Leu476Pro
ENST00000361676.8:c.1424T>C	ENSP00000355183.4:p.Leu475Pro
ENST00000397789.3:c.1550T>C	ENSP00000380891.3:p.Leu517Pro
ENST00000403435.5:c.1463T>C	ENSP00000384029.1:p.Leu488Pro
ENST00000403999.7:c.1550T>C	ENSP00000384797.3:p.Leu517Pro
ENST00000413209.6:c.448-16453T>C	ENSP00000409921.2:n.448-16453T>C
ENST00000432151.5:c.*69T>C	ENSP00000395885.1:n.*69T>C
NM_000268.3:c.1550T>C , LRG_511t1:c.1550T>C	NP_000259.1:p.Leu517Pro
NM_016418.5:c.1550T>C , LRG_511t2:c.1550T>C	NP_057502.2:p.Leu517Pro
NM_181825.2:c.1550T>C	NP_861546.1:p.Leu517Pro
NM_181828.2:c.1424T>C	NP_861966.1:p.Leu475Pro
NM_181829.2:c.1427T>C	NP_861967.1:p.Leu476Pro
NM_181830.2:c.1301T>C	NP_861968.1:p.Leu434Pro
NM_181831.2:c.1301T>C	NP_861969.1:p.Leu434Pro
NM_181832.2:c.1550T>C	NP_861970.1:p.Leu517Pro
NM_181833.2:c.448-16453T>C	NP_861971.1:n.448-16453T>C
NR_156186.1:n.2109T>C
XM_017028809.2:c.1436T>C	XP_016884298.1:p.Leu479Pro
XM_017028810.1:c.1436T>C	XP_016884299.1:p.Leu479Pro
NM_000268.4:c.1550T>C MANE Select	NP_000259.1:p.Leu517Pro
NM_181825.3:c.1550T>C	NP_861546.1:p.Leu517Pro
NM_181828.3:c.1424T>C	NP_861966.1:p.Leu475Pro
NM_181829.3:c.1427T>C	NP_861967.1:p.Leu476Pro
NM_181830.3:c.1301T>C	NP_861968.1:p.Leu434Pro
NM_181831.3:c.1301T>C	NP_861969.1:p.Leu434Pro
NM_181832.3:c.1550T>C	NP_861970.1:p.Leu517Pro
NR_156186.2:n.2032T>C
NM_181833.3:c.448-16453T>C	NP_861971.1:n.448-16453T>C