Canonical Allele Identifier: CA2400653193

Gene: NF2

Linked Data

• dbSNP Id: rs1890851644
• gnomAD v4: 22-29603586-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29603586C>A , CM000684.2:g.29603586C>A	GRCh38
NC_000022.10:g.29999575C>A , CM000684.1:g.29999575C>A	GRCh37
NC_000022.9:g.28329575C>A	NCBI36
NG_009057.1:g.5031C>A , LRG_511:g.5031C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000672805.1:c.-413C>A	ENSP00000500295.1:n.-413C>A
ENST00000338641.8:c.-413C>A	ENSP00000344666.4:n.-413C>A
ENST00000413209.6:c.-413C>A	ENSP00000409921.2:n.-413C>A
NM_000268.3:c.-413C>A , LRG_511t1:c.-413C>A	NP_000259.1:n.-413C>A
NM_016418.5:c.-413C>A , LRG_511t2:c.-413C>A	NP_057502.2:n.-413C>A
NM_181825.2:c.-413C>A	NP_861546.1:n.-413C>A
NM_181828.2:c.-413C>A	NP_861966.1:n.-413C>A
NM_181829.2:c.-413C>A	NP_861967.1:n.-413C>A
NM_181830.2:c.-413C>A	NP_861968.1:n.-413C>A
NM_181831.2:c.-413C>A	NP_861969.1:n.-413C>A
NM_181832.2:c.-413C>A	NP_861970.1:n.-413C>A
NM_181833.2:c.-413C>A	NP_861971.1:n.-413C>A
NR_156186.1:n.31C>A