Canonical Allele Identifier: CA752250179

Gene: NF2

Linked Data

• dbSNP Id: rs1219585042
• gnomAD v3: 22-29694859-T-G
• gnomAD v4: 22-29694859-T-G
• MyVariant Identifiers: chr22:g.30090848T>G (hg19) ; chr22:g.29694859T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694859T>G , CM000684.2:g.29694859T>G	GRCh38
NC_000022.10:g.30090848T>G , CM000684.1:g.30090848T>G	GRCh37
NC_000022.9:g.28420848T>G	NCBI36
NG_009057.1:g.96304T>G , LRG_511:g.96304T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*57T>G	ENSP00000354529.6:n.*57T>G
ENST00000673312.2:c.*1339T>G	ENSP00000500186.2:n.*1339T>G
ENST00000338641.10:c.*57T>G MANE Select	ENSP00000344666.5:n.*57T>G
ENST00000361166.9:c.1263T>G	ENSP00000354529.5:n.1263T>G
ENST00000672461.1:c.*117T>G	ENSP00000500919.1:n.*117T>G
ENST00000672805.1:c.*1727T>G	ENSP00000500295.1:n.*1727T>G
ENST00000672896.1:c.*117T>G	ENSP00000500117.1:n.*117T>G
ENST00000673312.1:c.1864T>G	ENSP00000500186.1:n.1864T>G
ENST00000338641.8:c.*57T>G	ENSP00000344666.4:n.*57T>G
ENST00000361452.8:c.*117T>G	ENSP00000354897.4:n.*117T>G
ENST00000413209.6:c.*57T>G	ENSP00000409921.2:n.*57T>G
ENST00000432151.5:c.*201T>G	ENSP00000395885.1:n.*201T>G
NM_000268.3:c.*57T>G , LRG_511t1:c.*57T>G	NP_000259.1:n.*57T>G
NM_016418.5:c.*117T>G , LRG_511t2:c.*117T>G	NP_057502.2:n.*117T>G
NM_181828.2:c.*117T>G	NP_861966.1:n.*117T>G
NM_181829.2:c.*117T>G	NP_861967.1:n.*117T>G
NM_181830.2:c.*117T>G	NP_861968.1:n.*117T>G
NM_181832.2:c.*132T>G	NP_861970.1:n.*132T>G
NM_181833.2:c.*57T>G	NP_861971.1:n.*57T>G
NR_156186.1:n.2404T>G
XM_017028809.2:c.*57T>G	XP_016884298.1:n.*57T>G
XM_017028810.1:c.*117T>G	XP_016884299.1:n.*117T>G
NM_000268.4:c.*57T>G MANE Select	NP_000259.1:n.*57T>G
NM_181828.3:c.*117T>G	NP_861966.1:n.*117T>G
NM_181829.3:c.*117T>G	NP_861967.1:n.*117T>G
NM_181830.3:c.*117T>G	NP_861968.1:n.*117T>G
NM_181832.3:c.*132T>G	NP_861970.1:n.*132T>G
NR_156186.2:n.2327T>G
NM_181833.3:c.*57T>G	NP_861971.1:n.*57T>G