Canonical Allele Identifier: CA10653346

Gene: NF2

Linked Data

• ClinVar Variation Id: 341177
• ClinVar RCV Id: RCV000270536
• dbSNP Id: rs886057392
• MyVariant Identifiers: chr22:g.30094506C>A (hg19) ; chr22:g.29698517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698517C>A , CM000684.2:g.29698517C>A	GRCh38
NC_000022.10:g.30094506C>A , CM000684.1:g.30094506C>A	GRCh37
NC_000022.9:g.28424506C>A	NCBI36
NG_009057.1:g.99962C>A , LRG_511:g.99962C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*3715C>A MANE Select	ENSP00000344666.5:n.*3715C>A
ENST00000672896.1:c.*3775C>A	ENSP00000500117.1:n.*3775C>A
ENST00000338641.8:c.*3715C>A	ENSP00000344666.4:n.*3715C>A
ENST00000361452.8:c.*3775C>A	ENSP00000354897.4:n.*3775C>A
ENST00000413209.6:c.*3715C>A	ENSP00000409921.2:n.*3715C>A
NM_000268.3:c.*3715C>A , LRG_511t1:c.*3715C>A	NP_000259.1:n.*3715C>A
NM_016418.5:c.*3775C>A , LRG_511t2:c.*3775C>A	NP_057502.2:n.*3775C>A
NM_181828.2:c.*3775C>A	NP_861966.1:n.*3775C>A
NM_181829.2:c.*3775C>A	NP_861967.1:n.*3775C>A
NM_181830.2:c.*3775C>A	NP_861968.1:n.*3775C>A
NM_181832.2:c.*3790C>A	NP_861970.1:n.*3790C>A
NM_181833.2:c.*3715C>A	NP_861971.1:n.*3715C>A
NR_156186.1:n.6062C>A
XM_017028810.1:c.*3775C>A	XP_016884299.1:n.*3775C>A
NM_000268.4:c.*3715C>A MANE Select	NP_000259.1:n.*3715C>A
NM_181828.3:c.*3775C>A	NP_861966.1:n.*3775C>A
NM_181829.3:c.*3775C>A	NP_861967.1:n.*3775C>A
NM_181830.3:c.*3775C>A	NP_861968.1:n.*3775C>A
NM_181832.3:c.*3790C>A	NP_861970.1:n.*3790C>A
NR_156186.2:n.5985C>A
NM_181833.3:c.*3715C>A	NP_861971.1:n.*3715C>A