Canonical Allele Identifier: CA035238

Gene: NF2

Linked Data

• ClinVar Variation Id: 578502
• ClinVar RCV Id: RCV000701527 ; RCV003892561
• dbSNP Id: rs760095910
• ExAC: 22:30057335 CAT / C
• gnomAD v2: 22-30057335-CAT-C
• gnomAD v3: 22-29661346-CAT-C
• gnomAD v4: 22-29661346-CAT-C
• MyVariant Identifiers: chr22:g.30057336_30057337del (hg19) ; chr22:g.29661347_29661348del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661347_29661348del , CM000684.2:g.29661347_29661348del	GRCh38
NC_000022.10:g.30057336_30057337del , CM000684.1:g.30057336_30057337del	GRCh37
NC_000022.9:g.28387336_28387337del	NCBI36
NG_009057.1:g.62792_62793del , LRG_511:g.62792_62793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+3083_675+3084del	ENSP00000354529.6:n.675+3083_675+3084del
ENST00000673312.2:c.*304+8_*304+9del	ENSP00000500186.2:n.*304+8_*304+9del
ENST00000338641.10:c.810+8_810+9del MANE Select	ENSP00000344666.5:n.810+8_810+9del
ENST00000361166.9:c.228+3083_228+3084del	ENSP00000354529.5:n.228+3083_228+3084del
ENST00000672461.1:c.810+8_810+9del	ENSP00000500919.1:n.810+8_810+9del
ENST00000672805.1:c.*692+8_*692+9del	ENSP00000500295.1:n.*692+8_*692+9del
ENST00000672896.1:c.810+8_810+9del	ENSP00000500117.1:n.810+8_810+9del
ENST00000673312.1:c.829+8_829+9del	ENSP00000500186.1:n.829+8_829+9del
ENST00000334961.11:c.561+8_561+9del	ENSP00000335652.7:n.561+8_561+9del
ENST00000338641.8:c.810+8_810+9del	ENSP00000344666.4:n.810+8_810+9del
ENST00000353887.8:c.561+8_561+9del	ENSP00000340626.4:n.561+8_561+9del
ENST00000361166.8:c.810+8_810+9del	ENSP00000354529.4:n.810+8_810+9del
ENST00000361452.8:c.687+8_687+9del	ENSP00000354897.4:n.687+8_687+9del
ENST00000361676.8:c.684+8_684+9del	ENSP00000355183.4:n.684+8_684+9del
ENST00000397789.3:c.810+8_810+9del	ENSP00000380891.3:n.810+8_810+9del
ENST00000403435.5:c.810+8_810+9del	ENSP00000384029.1:n.810+8_810+9del
ENST00000403999.7:c.810+8_810+9del	ENSP00000384797.3:n.810+8_810+9del
ENST00000413209.6:c.447+19062_447+19063del	ENSP00000409921.2:n.447+19062_447+19063de...
ENST00000432151.5:c.333+8_333+9del	ENSP00000395885.1:n.333+8_333+9del
NM_000268.3:c.810+8_810+9del , LRG_511t1:c.810+8_810+9del	NP_000259.1:n.810+8_810+9del
NM_016418.5:c.810+8_810+9del , LRG_511t2:c.810+8_810+9del	NP_057502.2:n.810+8_810+9del
NM_181825.2:c.810+8_810+9del	NP_861546.1:n.810+8_810+9del
NM_181828.2:c.684+8_684+9del	NP_861966.1:n.684+8_684+9del
NM_181829.2:c.687+8_687+9del	NP_861967.1:n.687+8_687+9del
NM_181830.2:c.561+8_561+9del	NP_861968.1:n.561+8_561+9del
NM_181831.2:c.561+8_561+9del	NP_861969.1:n.561+8_561+9del
NM_181832.2:c.810+8_810+9del	NP_861970.1:n.810+8_810+9del
NM_181833.2:c.447+19062_447+19063del	NP_861971.1:n.447+19062_447+19063del
NR_156186.1:n.1369+8_1369+9del
XM_017028809.2:c.696+8_696+9del	XP_016884298.1:n.696+8_696+9del
XM_017028810.1:c.696+8_696+9del	XP_016884299.1:n.696+8_696+9del
NM_000268.4:c.810+8_810+9del MANE Select	NP_000259.1:n.810+8_810+9del
NM_181825.3:c.810+8_810+9del	NP_861546.1:n.810+8_810+9del
NM_181828.3:c.684+8_684+9del	NP_861966.1:n.684+8_684+9del
NM_181829.3:c.687+8_687+9del	NP_861967.1:n.687+8_687+9del
NM_181830.3:c.561+8_561+9del	NP_861968.1:n.561+8_561+9del
NM_181831.3:c.561+8_561+9del	NP_861969.1:n.561+8_561+9del
NM_181832.3:c.810+8_810+9del	NP_861970.1:n.810+8_810+9del
NR_156186.2:n.1292+8_1292+9del
NM_181833.3:c.447+19062_447+19063del	NP_861971.1:n.447+19062_447+19063del