Canonical Allele Identifier: CA1024926755

Gene: NF2

Linked Data

• dbSNP Id: rs2067510346
• gnomAD v3: 22-29695052-T-TAACCC
• gnomAD v4: 22-29695052-T-TAACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695052_29695053insAACCC , CM000684.2:g.29695052_29695053insAACCC	GRCh38
NC_000022.10:g.30091041_30091042insAACCC , CM000684.1:g.30091041_30091042insAACCC	GRCh37
NC_000022.9:g.28421041_28421042insAACCC	NCBI36
NG_009057.1:g.96497_96498insAACCC , LRG_511:g.96497_96498insAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*250_*251insAACCC	ENSP00000354529.6:n.*250_*251insAACCC
ENST00000673312.2:c.*1532_*1533insAACCC	ENSP00000500186.2:n.*1532_*1533insAACCC
ENST00000338641.10:c.*250_*251insAACCC MANE Select	ENSP00000344666.5:n.*250_*251insAACCC
ENST00000361166.9:c.1456_1457insAACCC	ENSP00000354529.5:n.1456_1457insAACCC
ENST00000672461.1:c.*310_*311insAACCC	ENSP00000500919.1:n.*310_*311insAACCC
ENST00000672896.1:c.*310_*311insAACCC	ENSP00000500117.1:n.*310_*311insAACCC
ENST00000673312.1:c.2057_2058insAACCC	ENSP00000500186.1:n.2057_2058insAACCC
ENST00000338641.8:c.*250_*251insAACCC	ENSP00000344666.4:n.*250_*251insAACCC
ENST00000361452.8:c.*310_*311insAACCC	ENSP00000354897.4:n.*310_*311insAACCC
ENST00000413209.6:c.*250_*251insAACCC	ENSP00000409921.2:n.*250_*251insAACCC
NM_000268.3:c.*250_*251insAACCC , LRG_511t1:c.*250_*251insAACCC	NP_000259.1:n.*250_*251insAACCC
NM_016418.5:c.*310_*311insAACCC , LRG_511t2:c.*310_*311insAACCC	NP_057502.2:n.*310_*311insAACCC
NM_181828.2:c.*310_*311insAACCC	NP_861966.1:n.*310_*311insAACCC
NM_181829.2:c.*310_*311insAACCC	NP_861967.1:n.*310_*311insAACCC
NM_181830.2:c.*310_*311insAACCC	NP_861968.1:n.*310_*311insAACCC
NM_181832.2:c.*325_*326insAACCC	NP_861970.1:n.*325_*326insAACCC
NM_181833.2:c.*250_*251insAACCC	NP_861971.1:n.*250_*251insAACCC
NR_156186.1:n.2597_2598insAACCC
XM_017028809.2:c.*250_*251insAACCC	XP_016884298.1:n.*250_*251insAACCC
XM_017028810.1:c.*310_*311insAACCC	XP_016884299.1:n.*310_*311insAACCC
NM_000268.4:c.*250_*251insAACCC MANE Select	NP_000259.1:n.*250_*251insAACCC
NM_181828.3:c.*310_*311insAACCC	NP_861966.1:n.*310_*311insAACCC
NM_181829.3:c.*310_*311insAACCC	NP_861967.1:n.*310_*311insAACCC
NM_181830.3:c.*310_*311insAACCC	NP_861968.1:n.*310_*311insAACCC
NM_181832.3:c.*325_*326insAACCC	NP_861970.1:n.*325_*326insAACCC
NR_156186.2:n.2520_2521insAACCC
NM_181833.3:c.*250_*251insAACCC	NP_861971.1:n.*250_*251insAACCC