Canonical Allele Identifier: CA1024928365

Gene: NF2

Linked Data

• dbSNP Id: rs2067565853
• gnomAD v3: 22-29696836-AGATGGAG-A
• gnomAD v4: 22-29696836-AGATGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696837_29696843del , CM000684.2:g.29696837_29696843del	GRCh38
NC_000022.10:g.30092826_30092832del , CM000684.1:g.30092826_30092832del	GRCh37
NC_000022.9:g.28422826_28422832del	NCBI36
NG_009057.1:g.98282_98288del , LRG_511:g.98282_98288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2035_*2041del MANE Select	ENSP00000344666.5:n.*2035_*2041del
ENST00000672461.1:c.*502-424_*502-418del	ENSP00000500919.1:n.*502-424_*502-418del
ENST00000672896.1:c.*2095_*2101del	ENSP00000500117.1:n.*2095_*2101del
ENST00000338641.8:c.*2035_*2041del	ENSP00000344666.4:n.*2035_*2041del
ENST00000361452.8:c.*2095_*2101del	ENSP00000354897.4:n.*2095_*2101del
ENST00000413209.6:c.*2035_*2041del	ENSP00000409921.2:n.*2035_*2041del
NM_000268.3:c.*2035_*2041del , LRG_511t1:c.*2035_*2041del	NP_000259.1:n.*2035_*2041del
NM_016418.5:c.*2095_*2101del , LRG_511t2:c.*2095_*2101del	NP_057502.2:n.*2095_*2101del
NM_181828.2:c.*2095_*2101del	NP_861966.1:n.*2095_*2101del
NM_181829.2:c.*2095_*2101del	NP_861967.1:n.*2095_*2101del
NM_181830.2:c.*2095_*2101del	NP_861968.1:n.*2095_*2101del
NM_181832.2:c.*2110_*2116del	NP_861970.1:n.*2110_*2116del
NM_181833.2:c.*2035_*2041del	NP_861971.1:n.*2035_*2041del
NR_156186.1:n.4382_4388del
XM_017028810.1:c.*2095_*2101del	XP_016884299.1:n.*2095_*2101del
NM_000268.4:c.*2035_*2041del MANE Select	NP_000259.1:n.*2035_*2041del
NM_181828.3:c.*2095_*2101del	NP_861966.1:n.*2095_*2101del
NM_181829.3:c.*2095_*2101del	NP_861967.1:n.*2095_*2101del
NM_181830.3:c.*2095_*2101del	NP_861968.1:n.*2095_*2101del
NM_181832.3:c.*2110_*2116del	NP_861970.1:n.*2110_*2116del
NR_156186.2:n.4305_4311del
NM_181833.3:c.*2035_*2041del	NP_861971.1:n.*2035_*2041del