Canonical Allele Identifier: CA323109863

Gene: NF2

Linked Data

• dbSNP Id: rs529517150
• gnomAD v2: 22-30051028-T-C
• gnomAD v3: 22-29655039-T-C
• gnomAD v4: 22-29655039-T-C
• MyVariant Identifiers: chr22:g.30051028T>C (hg19) ; chr22:g.29655039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655039T>C , CM000684.2:g.29655039T>C	GRCh38
NC_000022.10:g.30051028T>C , CM000684.1:g.30051028T>C	GRCh37
NC_000022.9:g.28381028T>C	NCBI36
NG_009057.1:g.56484T>C , LRG_511:g.56484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.516+314T>C	ENSP00000354529.6:n.516+314T>C
ENST00000673312.2:c.581T>C	ENSP00000500186.2:p.Ile194Thr
ENST00000338641.10:c.516+314T>C MANE Select	ENSP00000344666.5:n.516+314T>C
ENST00000361166.9:c.69+314T>C	ENSP00000354529.5:n.69+314T>C
ENST00000672461.1:c.516+314T>C	ENSP00000500919.1:n.516+314T>C
ENST00000672805.1:c.*398+314T>C	ENSP00000500295.1:n.*398+314T>C
ENST00000672896.1:c.516+314T>C	ENSP00000500117.1:n.516+314T>C
ENST00000673312.1:c.494T>C	ENSP00000500186.1:p.Ile165Thr
ENST00000334961.11:c.267+314T>C	ENSP00000335652.7:n.267+314T>C
ENST00000338641.8:c.516+314T>C	ENSP00000344666.4:n.516+314T>C
ENST00000353887.8:c.267+314T>C	ENSP00000340626.4:n.267+314T>C
ENST00000361166.8:c.516+314T>C	ENSP00000354529.4:n.516+314T>C
ENST00000361452.8:c.393+314T>C	ENSP00000354897.4:n.393+314T>C
ENST00000361676.8:c.390+314T>C	ENSP00000355183.4:n.390+314T>C
ENST00000397789.3:c.516+314T>C	ENSP00000380891.3:n.516+314T>C
ENST00000403435.5:c.516+314T>C	ENSP00000384029.1:n.516+314T>C
ENST00000403999.7:c.516+314T>C	ENSP00000384797.3:n.516+314T>C
ENST00000413209.6:c.447+12754T>C	ENSP00000409921.2:n.447+12754T>C
ENST00000432151.5:c.199-6166T>C	ENSP00000395885.1:n.199-6166T>C
NM_000268.3:c.516+314T>C , LRG_511t1:c.516+314T>C	NP_000259.1:n.516+314T>C
NM_016418.5:c.516+314T>C , LRG_511t2:c.516+314T>C	NP_057502.2:n.516+314T>C
NM_181825.2:c.516+314T>C	NP_861546.1:n.516+314T>C
NM_181828.2:c.390+314T>C	NP_861966.1:n.390+314T>C
NM_181829.2:c.393+314T>C	NP_861967.1:n.393+314T>C
NM_181830.2:c.267+314T>C	NP_861968.1:n.267+314T>C
NM_181831.2:c.267+314T>C	NP_861969.1:n.267+314T>C
NM_181832.2:c.516+314T>C	NP_861970.1:n.516+314T>C
NM_181833.2:c.447+12754T>C	NP_861971.1:n.447+12754T>C
NR_156186.1:n.1075+314T>C
XM_017028809.2:c.402+314T>C	XP_016884298.1:n.402+314T>C
XM_017028810.1:c.402+314T>C	XP_016884299.1:n.402+314T>C
NM_000268.4:c.516+314T>C MANE Select	NP_000259.1:n.516+314T>C
NM_181825.3:c.516+314T>C	NP_861546.1:n.516+314T>C
NM_181828.3:c.390+314T>C	NP_861966.1:n.390+314T>C
NM_181829.3:c.393+314T>C	NP_861967.1:n.393+314T>C
NM_181830.3:c.267+314T>C	NP_861968.1:n.267+314T>C
NM_181831.3:c.267+314T>C	NP_861969.1:n.267+314T>C
NM_181832.3:c.516+314T>C	NP_861970.1:n.516+314T>C
NR_156186.2:n.998+314T>C
NM_181833.3:c.447+12754T>C	NP_861971.1:n.447+12754T>C