Canonical Allele Identifier: CA514191884

Gene: NF2

Linked Data

• dbSNP Id: rs2067585637
• gnomAD v3: 22-29697514-AAG-A
• gnomAD v4: 22-29697514-AAG-A
• MyVariant Identifiers: chr22:g.30093504_30093505del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697518_29697519del , CM000684.2:g.29697518_29697519del	GRCh38
NC_000022.10:g.30093507_30093508del , CM000684.1:g.30093507_30093508del	GRCh37
NC_000022.9:g.28423507_28423508del	NCBI36
NG_009057.1:g.98963_98964del , LRG_511:g.98963_98964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2716_*2717del MANE Select	ENSP00000344666.5:n.*2716_*2717del
ENST00000672461.1:c.*759_*760del	ENSP00000500919.1:n.*759_*760del
ENST00000672896.1:c.*2776_*2777del	ENSP00000500117.1:n.*2776_*2777del
ENST00000338641.8:c.*2716_*2717del	ENSP00000344666.4:n.*2716_*2717del
ENST00000361452.8:c.*2776_*2777del	ENSP00000354897.4:n.*2776_*2777del
ENST00000413209.6:c.*2716_*2717del	ENSP00000409921.2:n.*2716_*2717del
NM_000268.3:c.*2716_*2717del , LRG_511t1:c.*2716_*2717del	NP_000259.1:n.*2716_*2717del
NM_016418.5:c.*2776_*2777del , LRG_511t2:c.*2776_*2777del	NP_057502.2:n.*2776_*2777del
NM_181828.2:c.*2776_*2777del	NP_861966.1:n.*2776_*2777del
NM_181829.2:c.*2776_*2777del	NP_861967.1:n.*2776_*2777del
NM_181830.2:c.*2776_*2777del	NP_861968.1:n.*2776_*2777del
NM_181832.2:c.*2791_*2792del	NP_861970.1:n.*2791_*2792del
NM_181833.2:c.*2716_*2717del	NP_861971.1:n.*2716_*2717del
NR_156186.1:n.5063_5064del
XM_017028810.1:c.*2776_*2777del	XP_016884299.1:n.*2776_*2777del
NM_000268.4:c.*2716_*2717del MANE Select	NP_000259.1:n.*2716_*2717del
NM_181828.3:c.*2776_*2777del	NP_861966.1:n.*2776_*2777del
NM_181829.3:c.*2776_*2777del	NP_861967.1:n.*2776_*2777del
NM_181830.3:c.*2776_*2777del	NP_861968.1:n.*2776_*2777del
NM_181832.3:c.*2791_*2792del	NP_861970.1:n.*2791_*2792del
NR_156186.2:n.4986_4987del
NM_181833.3:c.*2716_*2717del	NP_861971.1:n.*2716_*2717del