Canonical Allele Identifier: CA323129449

Gene: NF2

Linked Data

• dbSNP Id: rs1021289027
• gnomAD v3: 22-29696831-T-TA
• gnomAD v4: 22-29696831-T-TA
• MyVariant Identifiers: chr22:g.30092820_30092821insA (hg19) ; chr22:g.29696831_29696832insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696831_29696832insA , CM000684.2:g.29696831_29696832insA	GRCh38
NC_000022.10:g.30092820_30092821insA , CM000684.1:g.30092820_30092821insA	GRCh37
NC_000022.9:g.28422820_28422821insA	NCBI36
NG_009057.1:g.98276_98277insA , LRG_511:g.98276_98277insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2029_*2030insA MANE Select	ENSP00000344666.5:n.*2029_*2030insA
ENST00000672461.1:c.*502-430_*502-429insA	ENSP00000500919.1:n.*502-430_*502-429insA
ENST00000672896.1:c.*2089_*2090insA	ENSP00000500117.1:n.*2089_*2090insA
ENST00000338641.8:c.*2029_*2030insA	ENSP00000344666.4:n.*2029_*2030insA
ENST00000361452.8:c.*2089_*2090insA	ENSP00000354897.4:n.*2089_*2090insA
ENST00000413209.6:c.*2029_*2030insA	ENSP00000409921.2:n.*2029_*2030insA
NM_000268.3:c.*2029_*2030insA , LRG_511t1:c.*2029_*2030insA	NP_000259.1:n.*2029_*2030insA
NM_016418.5:c.*2089_*2090insA , LRG_511t2:c.*2089_*2090insA	NP_057502.2:n.*2089_*2090insA
NM_181828.2:c.*2089_*2090insA	NP_861966.1:n.*2089_*2090insA
NM_181829.2:c.*2089_*2090insA	NP_861967.1:n.*2089_*2090insA
NM_181830.2:c.*2089_*2090insA	NP_861968.1:n.*2089_*2090insA
NM_181832.2:c.*2104_*2105insA	NP_861970.1:n.*2104_*2105insA
NM_181833.2:c.*2029_*2030insA	NP_861971.1:n.*2029_*2030insA
NR_156186.1:n.4376_4377insA
XM_017028810.1:c.*2089_*2090insA	XP_016884299.1:n.*2089_*2090insA
NM_000268.4:c.*2029_*2030insA MANE Select	NP_000259.1:n.*2029_*2030insA
NM_181828.3:c.*2089_*2090insA	NP_861966.1:n.*2089_*2090insA
NM_181829.3:c.*2089_*2090insA	NP_861967.1:n.*2089_*2090insA
NM_181830.3:c.*2089_*2090insA	NP_861968.1:n.*2089_*2090insA
NM_181832.3:c.*2104_*2105insA	NP_861970.1:n.*2104_*2105insA
NR_156186.2:n.4299_4300insA
NM_181833.3:c.*2029_*2030insA	NP_861971.1:n.*2029_*2030insA