Canonical Allele Identifier: CA2818694865

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695001_29695019del , CM000684.2:g.29695001_29695019del	GRCh38
NC_000022.10:g.30090990_30091008del , CM000684.1:g.30090990_30091008del	GRCh37
NC_000022.9:g.28420990_28421008del	NCBI36
NG_009057.1:g.96446_96464del , LRG_511:g.96446_96464del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.*199_*217del	ENSP00000354529.6:n.*199_*217del
ENST00000673312.2:c.*1481_*1499del	ENSP00000500186.2:n.*1481_*1499del
ENST00000338641.10:c.*199_*217del MANE Select	ENSP00000344666.5:n.*199_*217del
ENST00000361166.9:c.1405_1423del	ENSP00000354529.5:n.1405_1423del
ENST00000672461.1:c.*259_*277del	ENSP00000500919.1:n.*259_*277del
ENST00000672896.1:c.*259_*277del	ENSP00000500117.1:n.*259_*277del
ENST00000673312.1:c.2006_2024del	ENSP00000500186.1:n.2006_2024del
ENST00000338641.8:c.*199_*217del	ENSP00000344666.4:n.*199_*217del
ENST00000361452.8:c.*259_*277del	ENSP00000354897.4:n.*259_*277del
ENST00000413209.6:c.*199_*217del	ENSP00000409921.2:n.*199_*217del
NM_000268.3:c.*199_*217del , LRG_511t1:c.*199_*217del	NP_000259.1:n.*199_*217del
NM_016418.5:c.*259_*277del , LRG_511t2:c.*259_*277del	NP_057502.2:n.*259_*277del
NM_181828.2:c.*259_*277del	NP_861966.1:n.*259_*277del
NM_181829.2:c.*259_*277del	NP_861967.1:n.*259_*277del
NM_181830.2:c.*259_*277del	NP_861968.1:n.*259_*277del
NM_181832.2:c.*274_*292del	NP_861970.1:n.*274_*292del
NM_181833.2:c.*199_*217del	NP_861971.1:n.*199_*217del
NR_156186.1:n.2546_2564del
XM_017028809.2:c.*199_*217del	XP_016884298.1:n.*199_*217del
XM_017028810.1:c.*259_*277del	XP_016884299.1:n.*259_*277del
NM_000268.4:c.*199_*217del MANE Select	NP_000259.1:n.*199_*217del
NM_181828.3:c.*259_*277del	NP_861966.1:n.*259_*277del
NM_181829.3:c.*259_*277del	NP_861967.1:n.*259_*277del
NM_181830.3:c.*259_*277del	NP_861968.1:n.*259_*277del
NM_181832.3:c.*274_*292del	NP_861970.1:n.*274_*292del
NR_156186.2:n.2469_2487del
NM_181833.3:c.*199_*217del	NP_861971.1:n.*199_*217del