Canonical Allele Identifier: CA752278173

Gene: NF2

Linked Data

• dbSNP Id: rs1194306473
• MyVariant Identifiers: chr22:g.29999586_29999587insCG (hg19) ; chr22:g.29603597_29603598insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29603606_29603607dup , CM000684.2:g.29603606_29603607dup	GRCh38
NC_000022.10:g.29999595_29999596dup , CM000684.1:g.29999595_29999596dup	GRCh37
NC_000022.9:g.28329595_28329596dup	NCBI36
NG_009057.1:g.5051_5052dup , LRG_511:g.5051_5052dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000672805.1:c.-393_-392dup	ENSP00000500295.1:n.-393_-392dup
ENST00000338641.8:c.-393_-392dup	ENSP00000344666.4:n.-393_-392dup
ENST00000403435.5:c.-393_-392dup	ENSP00000384029.1:n.-393_-392dup
ENST00000413209.6:c.-393_-392dup	ENSP00000409921.2:n.-393_-392dup
NM_000268.3:c.-393_-392dup , LRG_511t1:c.-393_-392dup	NP_000259.1:n.-393_-392dup
NM_016418.5:c.-393_-392dup , LRG_511t2:c.-393_-392dup	NP_057502.2:n.-393_-392dup
NM_181825.2:c.-393_-392dup	NP_861546.1:n.-393_-392dup
NM_181828.2:c.-393_-392dup	NP_861966.1:n.-393_-392dup
NM_181829.2:c.-393_-392dup	NP_861967.1:n.-393_-392dup
NM_181830.2:c.-393_-392dup	NP_861968.1:n.-393_-392dup
NM_181831.2:c.-393_-392dup	NP_861969.1:n.-393_-392dup
NM_181832.2:c.-393_-392dup	NP_861970.1:n.-393_-392dup
NM_181833.2:c.-393_-392dup	NP_861971.1:n.-393_-392dup
NR_156186.1:n.51_52dup