Canonical Allele Identifier: CA638997234

Gene: NF2

Linked Data

• dbSNP Id: rs1241823517
• gnomAD v2: 22-30090867-G-T
• gnomAD v3: 22-29694878-G-T
• gnomAD v4: 22-29694878-G-T
• MyVariant Identifiers: chr22:g.30090867G>T (hg19) ; chr22:g.29694878G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694878G>T , CM000684.2:g.29694878G>T	GRCh38
NC_000022.10:g.30090867G>T , CM000684.1:g.30090867G>T	GRCh37
NC_000022.9:g.28420867G>T	NCBI36
NG_009057.1:g.96323G>T , LRG_511:g.96323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*76G>T	ENSP00000354529.6:n.*76G>T
ENST00000673312.2:c.*1358G>T	ENSP00000500186.2:n.*1358G>T
ENST00000338641.10:c.*76G>T MANE Select	ENSP00000344666.5:n.*76G>T
ENST00000361166.9:c.1282G>T	ENSP00000354529.5:n.1282G>T
ENST00000672461.1:c.*136G>T	ENSP00000500919.1:n.*136G>T
ENST00000672805.1:c.*1746G>T	ENSP00000500295.1:n.*1746G>T
ENST00000672896.1:c.*136G>T	ENSP00000500117.1:n.*136G>T
ENST00000673312.1:c.1883G>T	ENSP00000500186.1:n.1883G>T
ENST00000338641.8:c.*76G>T	ENSP00000344666.4:n.*76G>T
ENST00000361452.8:c.*136G>T	ENSP00000354897.4:n.*136G>T
ENST00000413209.6:c.*76G>T	ENSP00000409921.2:n.*76G>T
ENST00000432151.5:c.*220G>T	ENSP00000395885.1:n.*220G>T
NM_000268.3:c.*76G>T , LRG_511t1:c.*76G>T	NP_000259.1:n.*76G>T
NM_016418.5:c.*136G>T , LRG_511t2:c.*136G>T	NP_057502.2:n.*136G>T
NM_181828.2:c.*136G>T	NP_861966.1:n.*136G>T
NM_181829.2:c.*136G>T	NP_861967.1:n.*136G>T
NM_181830.2:c.*136G>T	NP_861968.1:n.*136G>T
NM_181832.2:c.*151G>T	NP_861970.1:n.*151G>T
NM_181833.2:c.*76G>T	NP_861971.1:n.*76G>T
NR_156186.1:n.2423G>T
XM_017028809.2:c.*76G>T	XP_016884298.1:n.*76G>T
XM_017028810.1:c.*136G>T	XP_016884299.1:n.*136G>T
NM_000268.4:c.*76G>T MANE Select	NP_000259.1:n.*76G>T
NM_181828.3:c.*136G>T	NP_861966.1:n.*136G>T
NM_181829.3:c.*136G>T	NP_861967.1:n.*136G>T
NM_181830.3:c.*136G>T	NP_861968.1:n.*136G>T
NM_181832.3:c.*151G>T	NP_861970.1:n.*151G>T
NR_156186.2:n.2346G>T
NM_181833.3:c.*76G>T	NP_861971.1:n.*76G>T