Canonical Allele Identifier: CA411147970

Gene: NF2

Linked Data

• ClinVar Variation Id: 581638
• ClinVar RCV Id: RCV000705527
• dbSNP Id: rs1569305865
• MyVariant Identifiers: chr22:g.30069264T>G (hg19) ; chr22:g.29673275T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673275T>G , CM000684.2:g.29673275T>G	GRCh38
NC_000022.10:g.30069264T>G , CM000684.1:g.30069264T>G	GRCh37
NC_000022.9:g.28399264T>G	NCBI36
NG_009057.1:g.74720T>G , LRG_511:g.74720T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.994T>G	ENSP00000354529.6:p.Ser332Ala
ENST00000673312.2:c.*623T>G	ENSP00000500186.2:n.*623T>G
ENST00000338641.10:c.1129T>G MANE Select	ENSP00000344666.5:p.Ser377Ala
ENST00000361166.9:c.547T>G	ENSP00000354529.5:p.Ser183Ala
ENST00000672461.1:c.1129T>G	ENSP00000500919.1:p.Ser377Ala
ENST00000672805.1:c.*1011T>G	ENSP00000500295.1:n.*1011T>G
ENST00000672896.1:c.1129T>G	ENSP00000500117.1:p.Ser377Ala
ENST00000673312.1:c.1148T>G	ENSP00000500186.1:n.1148T>G
ENST00000334961.11:c.880T>G	ENSP00000335652.7:p.Ser294Ala
ENST00000338641.8:c.1129T>G	ENSP00000344666.4:p.Ser377Ala
ENST00000353887.8:c.880T>G	ENSP00000340626.4:p.Ser294Ala
ENST00000361166.8:c.1129T>G	ENSP00000354529.4:p.Ser377Ala
ENST00000361452.8:c.1006T>G	ENSP00000354897.4:p.Ser336Ala
ENST00000361676.8:c.1003T>G	ENSP00000355183.4:p.Ser335Ala
ENST00000397789.3:c.1129T>G	ENSP00000380891.3:p.Ser377Ala
ENST00000403435.5:c.1042T>G	ENSP00000384029.1:p.Ser348Ala
ENST00000403999.7:c.1129T>G	ENSP00000384797.3:p.Ser377Ala
ENST00000413209.6:c.448-21477T>G	ENSP00000409921.2:n.448-21477T>G
ENST00000432151.5:c.523-1561T>G	ENSP00000395885.1:n.523-1561T>G
NM_000268.3:c.1129T>G , LRG_511t1:c.1129T>G	NP_000259.1:p.Ser377Ala
NM_016418.5:c.1129T>G , LRG_511t2:c.1129T>G	NP_057502.2:p.Ser377Ala
NM_181825.2:c.1129T>G	NP_861546.1:p.Ser377Ala
NM_181828.2:c.1003T>G	NP_861966.1:p.Ser335Ala
NM_181829.2:c.1006T>G	NP_861967.1:p.Ser336Ala
NM_181830.2:c.880T>G	NP_861968.1:p.Ser294Ala
NM_181831.2:c.880T>G	NP_861969.1:p.Ser294Ala
NM_181832.2:c.1129T>G	NP_861970.1:p.Ser377Ala
NM_181833.2:c.448-21477T>G	NP_861971.1:n.448-21477T>G
NR_156186.1:n.1688T>G
XM_017028809.2:c.1015T>G	XP_016884298.1:p.Ser339Ala
XM_017028810.1:c.1015T>G	XP_016884299.1:p.Ser339Ala
NM_000268.4:c.1129T>G MANE Select	NP_000259.1:p.Ser377Ala
NM_181825.3:c.1129T>G	NP_861546.1:p.Ser377Ala
NM_181828.3:c.1003T>G	NP_861966.1:p.Ser335Ala
NM_181829.3:c.1006T>G	NP_861967.1:p.Ser336Ala
NM_181830.3:c.880T>G	NP_861968.1:p.Ser294Ala
NM_181831.3:c.880T>G	NP_861969.1:p.Ser294Ala
NM_181832.3:c.1129T>G	NP_861970.1:p.Ser377Ala
NR_156186.2:n.1611T>G
NM_181833.3:c.448-21477T>G	NP_861971.1:n.448-21477T>G