Canonical Allele Identifier: CA638997232

Gene: NF2

Linked Data

• dbSNP Id: rs1466837815
• gnomAD v2: 22-30090846-G-A
• gnomAD v4: 22-29694857-G-A
• MyVariant Identifiers: chr22:g.30090846G>A (hg19) ; chr22:g.29694857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694857G>A , CM000684.2:g.29694857G>A	GRCh38
NC_000022.10:g.30090846G>A , CM000684.1:g.30090846G>A	GRCh37
NC_000022.9:g.28420846G>A	NCBI36
NG_009057.1:g.96302G>A , LRG_511:g.96302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*55G>A	ENSP00000354529.6:n.*55G>A
ENST00000673312.2:c.*1337G>A	ENSP00000500186.2:n.*1337G>A
ENST00000338641.10:c.*55G>A MANE Select	ENSP00000344666.5:n.*55G>A
ENST00000361166.9:c.1261G>A	ENSP00000354529.5:n.1261G>A
ENST00000672461.1:c.*115G>A	ENSP00000500919.1:n.*115G>A
ENST00000672805.1:c.*1725G>A	ENSP00000500295.1:n.*1725G>A
ENST00000672896.1:c.*115G>A	ENSP00000500117.1:n.*115G>A
ENST00000673312.1:c.1862G>A	ENSP00000500186.1:n.1862G>A
ENST00000338641.8:c.*55G>A	ENSP00000344666.4:n.*55G>A
ENST00000361452.8:c.*115G>A	ENSP00000354897.4:n.*115G>A
ENST00000413209.6:c.*55G>A	ENSP00000409921.2:n.*55G>A
ENST00000432151.5:c.*199G>A	ENSP00000395885.1:n.*199G>A
NM_000268.3:c.*55G>A , LRG_511t1:c.*55G>A	NP_000259.1:n.*55G>A
NM_016418.5:c.*115G>A , LRG_511t2:c.*115G>A	NP_057502.2:n.*115G>A
NM_181828.2:c.*115G>A	NP_861966.1:n.*115G>A
NM_181829.2:c.*115G>A	NP_861967.1:n.*115G>A
NM_181830.2:c.*115G>A	NP_861968.1:n.*115G>A
NM_181832.2:c.*130G>A	NP_861970.1:n.*130G>A
NM_181833.2:c.*55G>A	NP_861971.1:n.*55G>A
NR_156186.1:n.2402G>A
XM_017028809.2:c.*55G>A	XP_016884298.1:n.*55G>A
XM_017028810.1:c.*115G>A	XP_016884299.1:n.*115G>A
NM_000268.4:c.*55G>A MANE Select	NP_000259.1:n.*55G>A
NM_181828.3:c.*115G>A	NP_861966.1:n.*115G>A
NM_181829.3:c.*115G>A	NP_861967.1:n.*115G>A
NM_181830.3:c.*115G>A	NP_861968.1:n.*115G>A
NM_181832.3:c.*130G>A	NP_861970.1:n.*130G>A
NR_156186.2:n.2325G>A
NM_181833.3:c.*55G>A	NP_861971.1:n.*55G>A