Canonical Allele Identifier: CA411145878

Gene: NF2

Linked Data

• ClinVar Variation Id: 3231117
• ClinVar RCV Id: RCV004523231
• MyVariant Identifiers: chr22:g.30064383T>C (hg19) ; chr22:g.29668394T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29668394T>C , CM000684.2:g.29668394T>C	GRCh38
NC_000022.10:g.30064383T>C , CM000684.1:g.30064383T>C	GRCh37
NC_000022.9:g.28394383T>C	NCBI36
NG_009057.1:g.69839T>C , LRG_511:g.69839T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.812T>C	ENSP00000354529.6:p.Leu271Ser
ENST00000673312.2:c.*441T>C	ENSP00000500186.2:n.*441T>C
ENST00000338641.10:c.947T>C MANE Select	ENSP00000344666.5:p.Leu316Ser
ENST00000361166.9:c.365T>C	ENSP00000354529.5:p.Leu122Ser
ENST00000672461.1:c.947T>C	ENSP00000500919.1:p.Leu316Ser
ENST00000672805.1:c.*829T>C	ENSP00000500295.1:n.*829T>C
ENST00000672896.1:c.947T>C	ENSP00000500117.1:p.Leu316Ser
ENST00000673312.1:c.966T>C	ENSP00000500186.1:n.966T>C
ENST00000334961.11:c.698T>C	ENSP00000335652.7:p.Leu233Ser
ENST00000338641.8:c.947T>C	ENSP00000344666.4:p.Leu316Ser
ENST00000353887.8:c.698T>C	ENSP00000340626.4:p.Leu233Ser
ENST00000361166.8:c.947T>C	ENSP00000354529.4:p.Leu316Ser
ENST00000361452.8:c.824T>C	ENSP00000354897.4:p.Leu275Ser
ENST00000361676.8:c.821T>C	ENSP00000355183.4:p.Leu274Ser
ENST00000397789.3:c.947T>C	ENSP00000380891.3:p.Leu316Ser
ENST00000403435.5:c.947T>C	ENSP00000384029.1:p.Leu316Ser
ENST00000403999.7:c.947T>C	ENSP00000384797.3:p.Leu316Ser
ENST00000413209.6:c.447+26109T>C	ENSP00000409921.2:n.447+26109T>C
ENST00000432151.5:c.470T>C	ENSP00000395885.1:p.Leu157Ser
NM_000268.3:c.947T>C , LRG_511t1:c.947T>C	NP_000259.1:p.Leu316Ser
NM_016418.5:c.947T>C , LRG_511t2:c.947T>C	NP_057502.2:p.Leu316Ser
NM_181825.2:c.947T>C	NP_861546.1:p.Leu316Ser
NM_181828.2:c.821T>C	NP_861966.1:p.Leu274Ser
NM_181829.2:c.824T>C	NP_861967.1:p.Leu275Ser
NM_181830.2:c.698T>C	NP_861968.1:p.Leu233Ser
NM_181831.2:c.698T>C	NP_861969.1:p.Leu233Ser
NM_181832.2:c.947T>C	NP_861970.1:p.Leu316Ser
NM_181833.2:c.447+26109T>C	NP_861971.1:n.447+26109T>C
NR_156186.1:n.1506T>C
XM_017028809.2:c.833T>C	XP_016884298.1:p.Leu278Ser
XM_017028810.1:c.833T>C	XP_016884299.1:p.Leu278Ser
NM_000268.4:c.947T>C MANE Select	NP_000259.1:p.Leu316Ser
NM_181825.3:c.947T>C	NP_861546.1:p.Leu316Ser
NM_181828.3:c.821T>C	NP_861966.1:p.Leu274Ser
NM_181829.3:c.824T>C	NP_861967.1:p.Leu275Ser
NM_181830.3:c.698T>C	NP_861968.1:p.Leu233Ser
NM_181831.3:c.698T>C	NP_861969.1:p.Leu233Ser
NM_181832.3:c.947T>C	NP_861970.1:p.Leu316Ser
NR_156186.2:n.1429T>C
NM_181833.3:c.447+26109T>C	NP_861971.1:n.447+26109T>C