Canonical Allele Identifier: CA2656036057

Gene: NF2

Linked Data

• gnomAD v4: 22-29696837-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696838_29696839del , CM000684.2:g.29696838_29696839del	GRCh38
NC_000022.10:g.30092827_30092828del , CM000684.1:g.30092827_30092828del	GRCh37
NC_000022.9:g.28422827_28422828del	NCBI36
NG_009057.1:g.98283_98284del , LRG_511:g.98283_98284del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2036_*2037del MANE Select	ENSP00000344666.5:n.*2036_*2037del
ENST00000672461.1:c.*502-423_*502-422del	ENSP00000500919.1:n.*502-423_*502-422del
ENST00000672896.1:c.*2096_*2097del	ENSP00000500117.1:n.*2096_*2097del
ENST00000338641.8:c.*2036_*2037del	ENSP00000344666.4:n.*2036_*2037del
ENST00000361452.8:c.*2096_*2097del	ENSP00000354897.4:n.*2096_*2097del
ENST00000413209.6:c.*2036_*2037del	ENSP00000409921.2:n.*2036_*2037del
NM_000268.3:c.*2036_*2037del , LRG_511t1:c.*2036_*2037del	NP_000259.1:n.*2036_*2037del
NM_016418.5:c.*2096_*2097del , LRG_511t2:c.*2096_*2097del	NP_057502.2:n.*2096_*2097del
NM_181828.2:c.*2096_*2097del	NP_861966.1:n.*2096_*2097del
NM_181829.2:c.*2096_*2097del	NP_861967.1:n.*2096_*2097del
NM_181830.2:c.*2096_*2097del	NP_861968.1:n.*2096_*2097del
NM_181832.2:c.*2111_*2112del	NP_861970.1:n.*2111_*2112del
NM_181833.2:c.*2036_*2037del	NP_861971.1:n.*2036_*2037del
NR_156186.1:n.4383_4384del
XM_017028810.1:c.*2096_*2097del	XP_016884299.1:n.*2096_*2097del
NM_000268.4:c.*2036_*2037del MANE Select	NP_000259.1:n.*2036_*2037del
NM_181828.3:c.*2096_*2097del	NP_861966.1:n.*2096_*2097del
NM_181829.3:c.*2096_*2097del	NP_861967.1:n.*2096_*2097del
NM_181830.3:c.*2096_*2097del	NP_861968.1:n.*2096_*2097del
NM_181832.3:c.*2111_*2112del	NP_861970.1:n.*2111_*2112del
NR_156186.2:n.4306_4307del
NM_181833.3:c.*2036_*2037del	NP_861971.1:n.*2036_*2037del