Canonical Allele Identifier: CA411142563

Gene: NF2

Linked Data

• dbSNP Id: rs2146972236
• MyVariant Identifiers: chr22:g.30051605C>G (hg19) ; chr22:g.29655616C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655616C>G , CM000684.2:g.29655616C>G	GRCh38
NC_000022.10:g.30051605C>G , CM000684.1:g.30051605C>G	GRCh37
NC_000022.9:g.28381605C>G	NCBI36
NG_009057.1:g.57061C>G , LRG_511:g.57061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.539C>G	ENSP00000354529.6:p.Thr180Ser
ENST00000673312.2:c.*33C>G	ENSP00000500186.2:n.*33C>G
ENST00000338641.10:c.539C>G MANE Select	ENSP00000344666.5:p.Thr180Ser
ENST00000361166.9:c.92C>G	ENSP00000354529.5:p.Thr31Ser
ENST00000672461.1:c.539C>G	ENSP00000500919.1:p.Thr180Ser
ENST00000672805.1:c.*421C>G	ENSP00000500295.1:n.*421C>G
ENST00000672896.1:c.539C>G	ENSP00000500117.1:p.Thr180Ser
ENST00000673312.1:c.558C>G	ENSP00000500186.1:n.558C>G
ENST00000334961.11:c.290C>G	ENSP00000335652.7:p.Thr97Ser
ENST00000338641.8:c.539C>G	ENSP00000344666.4:p.Thr180Ser
ENST00000353887.8:c.290C>G	ENSP00000340626.4:p.Thr97Ser
ENST00000361166.8:c.539C>G	ENSP00000354529.4:p.Thr180Ser
ENST00000361452.8:c.416C>G	ENSP00000354897.4:p.Thr139Ser
ENST00000361676.8:c.413C>G	ENSP00000355183.4:p.Thr138Ser
ENST00000397789.3:c.539C>G	ENSP00000380891.3:p.Thr180Ser
ENST00000403435.5:c.539C>G	ENSP00000384029.1:p.Thr180Ser
ENST00000403999.7:c.539C>G	ENSP00000384797.3:p.Thr180Ser
ENST00000413209.6:c.447+13331C>G	ENSP00000409921.2:n.447+13331C>G
ENST00000432151.5:c.199-5589C>G	ENSP00000395885.1:n.199-5589C>G
NM_000268.3:c.539C>G , LRG_511t1:c.539C>G	NP_000259.1:p.Thr180Ser
NM_016418.5:c.539C>G , LRG_511t2:c.539C>G	NP_057502.2:p.Thr180Ser
NM_181825.2:c.539C>G	NP_861546.1:p.Thr180Ser
NM_181828.2:c.413C>G	NP_861966.1:p.Thr138Ser
NM_181829.2:c.416C>G	NP_861967.1:p.Thr139Ser
NM_181830.2:c.290C>G	NP_861968.1:p.Thr97Ser
NM_181831.2:c.290C>G	NP_861969.1:p.Thr97Ser
NM_181832.2:c.539C>G	NP_861970.1:p.Thr180Ser
NM_181833.2:c.447+13331C>G	NP_861971.1:n.447+13331C>G
NR_156186.1:n.1098C>G
XM_017028809.2:c.425C>G	XP_016884298.1:p.Thr142Ser
XM_017028810.1:c.425C>G	XP_016884299.1:p.Thr142Ser
NM_000268.4:c.539C>G MANE Select	NP_000259.1:p.Thr180Ser
NM_181825.3:c.539C>G	NP_861546.1:p.Thr180Ser
NM_181828.3:c.413C>G	NP_861966.1:p.Thr138Ser
NM_181829.3:c.416C>G	NP_861967.1:p.Thr139Ser
NM_181830.3:c.290C>G	NP_861968.1:p.Thr97Ser
NM_181831.3:c.290C>G	NP_861969.1:p.Thr97Ser
NM_181832.3:c.539C>G	NP_861970.1:p.Thr180Ser
NR_156186.2:n.1021C>G
NM_181833.3:c.447+13331C>G	NP_861971.1:n.447+13331C>G