Canonical Allele Identifier: CA658658912

Gene: NF2

Linked Data

• ClinVar Variation Id: 453214
• ClinVar RCV Id: RCV000522897 ; RCV000528431
• dbSNP Id: rs1556001351
• MyVariant Identifiers: chr22:g.30070830_30070831del (hg19) ; chr22:g.29674841_29674842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674841_29674842del , CM000684.2:g.29674841_29674842del	GRCh38
NC_000022.10:g.30070830_30070831del , CM000684.1:g.30070830_30070831del	GRCh37
NC_000022.9:g.28400830_28400831del	NCBI36
NG_009057.1:g.76286_76287del , LRG_511:g.76286_76287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1211_1212del	ENSP00000354529.6:p.Lys404ArgfsTer?
ENST00000673312.2:c.*840_*841del	ENSP00000500186.2:n.*840_*841del
ENST00000338641.10:c.1346_1347del MANE Select	ENSP00000344666.5:p.Lys449ArgfsTer?
ENST00000361166.9:c.764_765del	ENSP00000354529.5:p.Lys255ArgfsTer?
ENST00000672461.1:c.1346_1347del	ENSP00000500919.1:p.Lys449ArgfsTer?
ENST00000672805.1:c.*1228_*1229del	ENSP00000500295.1:n.*1228_*1229del
ENST00000672896.1:c.1346_1347del	ENSP00000500117.1:p.Lys449ArgfsTer?
ENST00000673312.1:c.1365_1366del	ENSP00000500186.1:n.1365_1366del
ENST00000334961.11:c.1097_1098del	ENSP00000335652.7:p.Lys366ArgfsTer?
ENST00000338641.8:c.1346_1347del	ENSP00000344666.4:p.Lys449ArgfsTer?
ENST00000353887.8:c.1097_1098del	ENSP00000340626.4:p.Lys366ArgfsTer?
ENST00000361166.8:c.1346_1347del	ENSP00000354529.4:p.Lys449ArgfsTer?
ENST00000361452.8:c.1223_1224del	ENSP00000354897.4:p.Lys408ArgfsTer?
ENST00000361676.8:c.1220_1221del	ENSP00000355183.4:p.Lys407ArgfsTer?
ENST00000397789.3:c.1346_1347del	ENSP00000380891.3:p.Lys449ArgfsTer?
ENST00000403435.5:c.1259_1260del	ENSP00000384029.1:p.Lys420ArgfsTer?
ENST00000403999.7:c.1346_1347del	ENSP00000384797.3:p.Lys449ArgfsTer?
ENST00000413209.6:c.448-19911_448-19910del	ENSP00000409921.2:n.448-19911_448-19910del
ENST00000432151.5:c.528_529del	ENSP00000395885.1:p.Gly178GlnfsTer4
NM_000268.3:c.1346_1347del , LRG_511t1:c.1346_1347del	NP_000259.1:p.Lys449ArgfsTer?
NM_016418.5:c.1346_1347del , LRG_511t2:c.1346_1347del	NP_057502.2:p.Lys449ArgfsTer?
NM_181825.2:c.1346_1347del	NP_861546.1:p.Lys449ArgfsTer?
NM_181828.2:c.1220_1221del	NP_861966.1:p.Lys407ArgfsTer?
NM_181829.2:c.1223_1224del	NP_861967.1:p.Lys408ArgfsTer?
NM_181830.2:c.1097_1098del	NP_861968.1:p.Lys366ArgfsTer?
NM_181831.2:c.1097_1098del	NP_861969.1:p.Lys366ArgfsTer?
NM_181832.2:c.1346_1347del	NP_861970.1:p.Lys449ArgfsTer?
NM_181833.2:c.448-19911_448-19910del	NP_861971.1:n.448-19911_448-19910del
NR_156186.1:n.1905_1906del
XM_017028809.2:c.1232_1233del	XP_016884298.1:p.Lys411ArgfsTer?
XM_017028810.1:c.1232_1233del	XP_016884299.1:p.Lys411ArgfsTer?
NM_000268.4:c.1346_1347del MANE Select	NP_000259.1:p.Lys449ArgfsTer?
NM_181825.3:c.1346_1347del	NP_861546.1:p.Lys449ArgfsTer?
NM_181828.3:c.1220_1221del	NP_861966.1:p.Lys407ArgfsTer?
NM_181829.3:c.1223_1224del	NP_861967.1:p.Lys408ArgfsTer?
NM_181830.3:c.1097_1098del	NP_861968.1:p.Lys366ArgfsTer?
NM_181831.3:c.1097_1098del	NP_861969.1:p.Lys366ArgfsTer?
NM_181832.3:c.1346_1347del	NP_861970.1:p.Lys449ArgfsTer?
NR_156186.2:n.1828_1829del
NM_181833.3:c.448-19911_448-19910del	NP_861971.1:n.448-19911_448-19910del