Canonical Allele Identifier: CA323109662

Gene: NF2

Linked Data

• dbSNP Id: rs201396060
• gnomAD v3: 22-29654437-CCCAT-C
• gnomAD v4: 22-29654437-CCCAT-C
• MyVariant Identifiers: chr22:g.30050427_30050430del (hg19) ; chr22:g.29654438_29654441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654443_29654446del , CM000684.2:g.29654443_29654446del	GRCh38
NC_000022.10:g.30050432_30050435del , CM000684.1:g.30050432_30050435del	GRCh37
NC_000022.9:g.28380432_28380435del	NCBI36
NG_009057.1:g.55888_55891del , LRG_511:g.55888_55891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.448-214_448-211del	ENSP00000354529.6:n.448-214_448-211del
ENST00000673312.2:c.448-214_448-211del	ENSP00000500186.2:n.448-214_448-211del
ENST00000338641.10:c.448-214_448-211del MANE Select	ENSP00000344666.5:n.448-214_448-211del
ENST00000672461.1:c.448-214_448-211del	ENSP00000500919.1:n.448-214_448-211del
ENST00000672805.1:c.*330-214_*330-211del	ENSP00000500295.1:n.*330-214_*330-211del
ENST00000672896.1:c.448-214_448-211del	ENSP00000500117.1:n.448-214_448-211del
ENST00000673312.1:c.361-214_361-211del	ENSP00000500186.1:n.361-214_361-211del
ENST00000334961.11:c.199-214_199-211del	ENSP00000335652.7:n.199-214_199-211del
ENST00000338641.8:c.448-214_448-211del	ENSP00000344666.4:n.448-214_448-211del
ENST00000353887.8:c.199-214_199-211del	ENSP00000340626.4:n.199-214_199-211del
ENST00000361166.8:c.448-214_448-211del	ENSP00000354529.4:n.448-214_448-211del
ENST00000361452.8:c.325-214_325-211del	ENSP00000354897.4:n.325-214_325-211del
ENST00000361676.8:c.322-214_322-211del	ENSP00000355183.4:n.322-214_322-211del
ENST00000397789.3:c.448-214_448-211del	ENSP00000380891.3:n.448-214_448-211del
ENST00000403435.5:c.448-214_448-211del	ENSP00000384029.1:n.448-214_448-211del
ENST00000403999.7:c.448-214_448-211del	ENSP00000384797.3:n.448-214_448-211del
ENST00000413209.6:c.447+12158_447+12161del	ENSP00000409921.2:n.447+12158_447+12161del
ENST00000432151.5:c.199-6762_199-6759del	ENSP00000395885.1:n.199-6762_199-6759del
NM_000268.3:c.448-214_448-211del , LRG_511t1:c.448-214_448-211del	NP_000259.1:n.448-214_448-211del
NM_016418.5:c.448-214_448-211del , LRG_511t2:c.448-214_448-211del	NP_057502.2:n.448-214_448-211del
NM_181825.2:c.448-214_448-211del	NP_861546.1:n.448-214_448-211del
NM_181828.2:c.322-214_322-211del	NP_861966.1:n.322-214_322-211del
NM_181829.2:c.325-214_325-211del	NP_861967.1:n.325-214_325-211del
NM_181830.2:c.199-214_199-211del	NP_861968.1:n.199-214_199-211del
NM_181831.2:c.199-214_199-211del	NP_861969.1:n.199-214_199-211del
NM_181832.2:c.448-214_448-211del	NP_861970.1:n.448-214_448-211del
NM_181833.2:c.447+12158_447+12161del	NP_861971.1:n.447+12158_447+12161del
NR_156186.1:n.1007-214_1007-211del
XM_017028809.2:c.334-214_334-211del	XP_016884298.1:n.334-214_334-211del
XM_017028810.1:c.334-214_334-211del	XP_016884299.1:n.334-214_334-211del
NM_000268.4:c.448-214_448-211del MANE Select	NP_000259.1:n.448-214_448-211del
NM_181825.3:c.448-214_448-211del	NP_861546.1:n.448-214_448-211del
NM_181828.3:c.322-214_322-211del	NP_861966.1:n.322-214_322-211del
NM_181829.3:c.325-214_325-211del	NP_861967.1:n.325-214_325-211del
NM_181830.3:c.199-214_199-211del	NP_861968.1:n.199-214_199-211del
NM_181831.3:c.199-214_199-211del	NP_861969.1:n.199-214_199-211del
NM_181832.3:c.448-214_448-211del	NP_861970.1:n.448-214_448-211del
NR_156186.2:n.930-214_930-211del
NM_181833.3:c.447+12158_447+12161del	NP_861971.1:n.447+12158_447+12161del