Canonical Allele Identifier: CA1024929620

Gene: NF2

Linked Data

• dbSNP Id: rs2067599772
• gnomAD v3: 22-29697953-ATGG-A
• gnomAD v4: 22-29697953-ATGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697958_29697960del , CM000684.2:g.29697958_29697960del	GRCh38
NC_000022.10:g.30093947_30093949del , CM000684.1:g.30093947_30093949del	GRCh37
NC_000022.9:g.28423947_28423949del	NCBI36
NG_009057.1:g.99403_99405del , LRG_511:g.99403_99405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*3156_*3158del MANE Select	ENSP00000344666.5:n.*3156_*3158del
ENST00000672896.1:c.*3216_*3218del	ENSP00000500117.1:n.*3216_*3218del
ENST00000338641.8:c.*3156_*3158del	ENSP00000344666.4:n.*3156_*3158del
ENST00000361452.8:c.*3216_*3218del	ENSP00000354897.4:n.*3216_*3218del
ENST00000413209.6:c.*3156_*3158del	ENSP00000409921.2:n.*3156_*3158del
NM_000268.3:c.*3156_*3158del , LRG_511t1:c.*3156_*3158del	NP_000259.1:n.*3156_*3158del
NM_016418.5:c.*3216_*3218del , LRG_511t2:c.*3216_*3218del	NP_057502.2:n.*3216_*3218del
NM_181828.2:c.*3216_*3218del	NP_861966.1:n.*3216_*3218del
NM_181829.2:c.*3216_*3218del	NP_861967.1:n.*3216_*3218del
NM_181830.2:c.*3216_*3218del	NP_861968.1:n.*3216_*3218del
NM_181832.2:c.*3231_*3233del	NP_861970.1:n.*3231_*3233del
NM_181833.2:c.*3156_*3158del	NP_861971.1:n.*3156_*3158del
NR_156186.1:n.5503_5505del
XM_017028810.1:c.*3216_*3218del	XP_016884299.1:n.*3216_*3218del
NM_000268.4:c.*3156_*3158del MANE Select	NP_000259.1:n.*3156_*3158del
NM_181828.3:c.*3216_*3218del	NP_861966.1:n.*3216_*3218del
NM_181829.3:c.*3216_*3218del	NP_861967.1:n.*3216_*3218del
NM_181830.3:c.*3216_*3218del	NP_861968.1:n.*3216_*3218del
NM_181832.3:c.*3231_*3233del	NP_861970.1:n.*3231_*3233del
NR_156186.2:n.5426_5428del
NM_181833.3:c.*3156_*3158del	NP_861971.1:n.*3156_*3158del