Canonical Allele Identifier: CA323099333

Gene: NF2

Linked Data

• dbSNP Id: rs570135699
• gnomAD v3: 22-29603595-C-T
• gnomAD v4: 22-29603595-C-T
• MyVariant Identifiers: chr22:g.29999584C>T (hg19) ; chr22:g.29603595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29603595C>T , CM000684.2:g.29603595C>T	GRCh38
NC_000022.10:g.29999584C>T , CM000684.1:g.29999584C>T	GRCh37
NC_000022.9:g.28329584C>T	NCBI36
NG_009057.1:g.5040C>T , LRG_511:g.5040C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000672805.1:c.-404C>T	ENSP00000500295.1:n.-404C>T
ENST00000338641.8:c.-404C>T	ENSP00000344666.4:n.-404C>T
ENST00000403435.5:c.-404C>T	ENSP00000384029.1:n.-404C>T
ENST00000413209.6:c.-404C>T	ENSP00000409921.2:n.-404C>T
NM_000268.3:c.-404C>T , LRG_511t1:c.-404C>T	NP_000259.1:n.-404C>T
NM_016418.5:c.-404C>T , LRG_511t2:c.-404C>T	NP_057502.2:n.-404C>T
NM_181825.2:c.-404C>T	NP_861546.1:n.-404C>T
NM_181828.2:c.-404C>T	NP_861966.1:n.-404C>T
NM_181829.2:c.-404C>T	NP_861967.1:n.-404C>T
NM_181830.2:c.-404C>T	NP_861968.1:n.-404C>T
NM_181831.2:c.-404C>T	NP_861969.1:n.-404C>T
NM_181832.2:c.-404C>T	NP_861970.1:n.-404C>T
NM_181833.2:c.-404C>T	NP_861971.1:n.-404C>T
NR_156186.1:n.40C>T