Canonical Allele Identifier: CA411142144

Gene: NF2

Linked Data

• ClinVar Variation Id: 1312631
• ClinVar RCV Id: RCV001763637 ; RCV001868563 ; RCV004040245
• dbSNP Id: rs2146966580
• gnomAD v4: 22-29654673-C-T
• MyVariant Identifiers: chr22:g.30050662C>T (hg19) ; chr22:g.29654673C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654673C>T , CM000684.2:g.29654673C>T	GRCh38
NC_000022.10:g.30050662C>T , CM000684.1:g.30050662C>T	GRCh37
NC_000022.9:g.28380662C>T	NCBI36
NG_009057.1:g.56118C>T , LRG_511:g.56118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.464C>T	ENSP00000354529.6:p.Pro155Leu
ENST00000673312.2:c.464C>T	ENSP00000500186.2:p.Pro155Leu
ENST00000338641.10:c.464C>T MANE Select	ENSP00000344666.5:p.Pro155Leu
ENST00000361166.9:c.17C>T	ENSP00000354529.5:p.Pro6Leu
ENST00000672461.1:c.464C>T	ENSP00000500919.1:p.Pro155Leu
ENST00000672805.1:c.*346C>T	ENSP00000500295.1:n.*346C>T
ENST00000672896.1:c.464C>T	ENSP00000500117.1:p.Pro155Leu
ENST00000673312.1:c.377C>T	ENSP00000500186.1:p.Pro126Leu
ENST00000334961.11:c.215C>T	ENSP00000335652.7:p.Pro72Leu
ENST00000338641.8:c.464C>T	ENSP00000344666.4:p.Pro155Leu
ENST00000353887.8:c.215C>T	ENSP00000340626.4:p.Pro72Leu
ENST00000361166.8:c.464C>T	ENSP00000354529.4:p.Pro155Leu
ENST00000361452.8:c.341C>T	ENSP00000354897.4:p.Pro114Leu
ENST00000361676.8:c.338C>T	ENSP00000355183.4:p.Pro113Leu
ENST00000397789.3:c.464C>T	ENSP00000380891.3:p.Pro155Leu
ENST00000403435.5:c.464C>T	ENSP00000384029.1:p.Pro155Leu
ENST00000403999.7:c.464C>T	ENSP00000384797.3:p.Pro155Leu
ENST00000413209.6:c.447+12388C>T	ENSP00000409921.2:n.447+12388C>T
ENST00000432151.5:c.199-6532C>T	ENSP00000395885.1:n.199-6532C>T
NM_000268.3:c.464C>T , LRG_511t1:c.464C>T	NP_000259.1:p.Pro155Leu
NM_016418.5:c.464C>T , LRG_511t2:c.464C>T	NP_057502.2:p.Pro155Leu
NM_181825.2:c.464C>T	NP_861546.1:p.Pro155Leu
NM_181828.2:c.338C>T	NP_861966.1:p.Pro113Leu
NM_181829.2:c.341C>T	NP_861967.1:p.Pro114Leu
NM_181830.2:c.215C>T	NP_861968.1:p.Pro72Leu
NM_181831.2:c.215C>T	NP_861969.1:p.Pro72Leu
NM_181832.2:c.464C>T	NP_861970.1:p.Pro155Leu
NM_181833.2:c.447+12388C>T	NP_861971.1:n.447+12388C>T
NR_156186.1:n.1023C>T
XM_017028809.2:c.350C>T	XP_016884298.1:p.Pro117Leu
XM_017028810.1:c.350C>T	XP_016884299.1:p.Pro117Leu
NM_000268.4:c.464C>T MANE Select	NP_000259.1:p.Pro155Leu
NM_181825.3:c.464C>T	NP_861546.1:p.Pro155Leu
NM_181828.3:c.338C>T	NP_861966.1:p.Pro113Leu
NM_181829.3:c.341C>T	NP_861967.1:p.Pro114Leu
NM_181830.3:c.215C>T	NP_861968.1:p.Pro72Leu
NM_181831.3:c.215C>T	NP_861969.1:p.Pro72Leu
NM_181832.3:c.464C>T	NP_861970.1:p.Pro155Leu
NR_156186.2:n.946C>T
NM_181833.3:c.447+12388C>T	NP_861971.1:n.447+12388C>T