Canonical Allele Identifier: CA411149578

Gene: NF2

Linked Data

• ClinVar Variation Id: 1393924
• ClinVar RCV Id: RCV001900791 ; RCV002388783
• dbSNP Id: rs1156963577
• MyVariant Identifiers: chr22:g.30074204C>T (hg19) ; chr22:g.29678215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678215C>T , CM000684.2:g.29678215C>T	GRCh38
NC_000022.10:g.30074204C>T , CM000684.1:g.30074204C>T	GRCh37
NC_000022.9:g.28404204C>T	NCBI36
NG_009057.1:g.79660C>T , LRG_511:g.79660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1331C>T	ENSP00000354529.6:p.Ala444Val
ENST00000673312.2:c.*960C>T	ENSP00000500186.2:n.*960C>T
ENST00000338641.10:c.1466C>T MANE Select	ENSP00000344666.5:p.Ala489Val
ENST00000361166.9:c.884C>T	ENSP00000354529.5:p.Ala295Val
ENST00000672461.1:c.1466C>T	ENSP00000500919.1:p.Ala489Val
ENST00000672805.1:c.*1348C>T	ENSP00000500295.1:n.*1348C>T
ENST00000672896.1:c.1466C>T	ENSP00000500117.1:p.Ala489Val
ENST00000673312.1:c.1485C>T	ENSP00000500186.1:n.1485C>T
ENST00000334961.11:c.1217C>T	ENSP00000335652.7:p.Ala406Val
ENST00000338641.8:c.1466C>T	ENSP00000344666.4:p.Ala489Val
ENST00000353887.8:c.1217C>T	ENSP00000340626.4:p.Ala406Val
ENST00000361166.8:c.1466C>T	ENSP00000354529.4:p.Ala489Val
ENST00000361452.8:c.1343C>T	ENSP00000354897.4:p.Ala448Val
ENST00000361676.8:c.1340C>T	ENSP00000355183.4:p.Ala447Val
ENST00000397789.3:c.1466C>T	ENSP00000380891.3:p.Ala489Val
ENST00000403435.5:c.1379C>T	ENSP00000384029.1:p.Ala460Val
ENST00000403999.7:c.1466C>T	ENSP00000384797.3:p.Ala489Val
ENST00000413209.6:c.448-16537C>T	ENSP00000409921.2:n.448-16537C>T
ENST00000432151.5:c.648C>T	ENSP00000395885.1:p.Ser216=
NM_000268.3:c.1466C>T , LRG_511t1:c.1466C>T	NP_000259.1:p.Ala489Val
NM_016418.5:c.1466C>T , LRG_511t2:c.1466C>T	NP_057502.2:p.Ala489Val
NM_181825.2:c.1466C>T	NP_861546.1:p.Ala489Val
NM_181828.2:c.1340C>T	NP_861966.1:p.Ala447Val
NM_181829.2:c.1343C>T	NP_861967.1:p.Ala448Val
NM_181830.2:c.1217C>T	NP_861968.1:p.Ala406Val
NM_181831.2:c.1217C>T	NP_861969.1:p.Ala406Val
NM_181832.2:c.1466C>T	NP_861970.1:p.Ala489Val
NM_181833.2:c.448-16537C>T	NP_861971.1:n.448-16537C>T
NR_156186.1:n.2025C>T
XM_017028809.2:c.1352C>T	XP_016884298.1:p.Ala451Val
XM_017028810.1:c.1352C>T	XP_016884299.1:p.Ala451Val
NM_000268.4:c.1466C>T MANE Select	NP_000259.1:p.Ala489Val
NM_181825.3:c.1466C>T	NP_861546.1:p.Ala489Val
NM_181828.3:c.1340C>T	NP_861966.1:p.Ala447Val
NM_181829.3:c.1343C>T	NP_861967.1:p.Ala448Val
NM_181830.3:c.1217C>T	NP_861968.1:p.Ala406Val
NM_181831.3:c.1217C>T	NP_861969.1:p.Ala406Val
NM_181832.3:c.1466C>T	NP_861970.1:p.Ala489Val
NR_156186.2:n.1948C>T
NM_181833.3:c.448-16537C>T	NP_861971.1:n.448-16537C>T