Canonical Allele Identifier: CA411148844

Gene: NF2

Linked Data

• MyVariant Identifiers: chr22:g.30070839A>T (hg19) ; chr22:g.29674850A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674850A>T , CM000684.2:g.29674850A>T	GRCh38
NC_000022.10:g.30070839A>T , CM000684.1:g.30070839A>T	GRCh37
NC_000022.9:g.28400839A>T	NCBI36
NG_009057.1:g.76295A>T , LRG_511:g.76295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1220A>T	ENSP00000354529.6:p.Asp407Val
ENST00000673312.2:c.*849A>T	ENSP00000500186.2:n.*849A>T
ENST00000338641.10:c.1355A>T MANE Select	ENSP00000344666.5:p.Asp452Val
ENST00000361166.9:c.773A>T	ENSP00000354529.5:p.Asp258Val
ENST00000672461.1:c.1355A>T	ENSP00000500919.1:p.Asp452Val
ENST00000672805.1:c.*1237A>T	ENSP00000500295.1:n.*1237A>T
ENST00000672896.1:c.1355A>T	ENSP00000500117.1:p.Asp452Val
ENST00000673312.1:c.1374A>T	ENSP00000500186.1:n.1374A>T
ENST00000334961.11:c.1106A>T	ENSP00000335652.7:p.Asp369Val
ENST00000338641.8:c.1355A>T	ENSP00000344666.4:p.Asp452Val
ENST00000353887.8:c.1106A>T	ENSP00000340626.4:p.Asp369Val
ENST00000361166.8:c.1355A>T	ENSP00000354529.4:p.Asp452Val
ENST00000361452.8:c.1232A>T	ENSP00000354897.4:p.Asp411Val
ENST00000361676.8:c.1229A>T	ENSP00000355183.4:p.Asp410Val
ENST00000397789.3:c.1355A>T	ENSP00000380891.3:p.Asp452Val
ENST00000403435.5:c.1268A>T	ENSP00000384029.1:p.Asp423Val
ENST00000403999.7:c.1355A>T	ENSP00000384797.3:p.Asp452Val
ENST00000413209.6:c.448-19902A>T	ENSP00000409921.2:n.448-19902A>T
ENST00000432151.5:c.537A>T	ENSP00000395885.1:p.Arg179Ser
NM_000268.3:c.1355A>T , LRG_511t1:c.1355A>T	NP_000259.1:p.Asp452Val
NM_016418.5:c.1355A>T , LRG_511t2:c.1355A>T	NP_057502.2:p.Asp452Val
NM_181825.2:c.1355A>T	NP_861546.1:p.Asp452Val
NM_181828.2:c.1229A>T	NP_861966.1:p.Asp410Val
NM_181829.2:c.1232A>T	NP_861967.1:p.Asp411Val
NM_181830.2:c.1106A>T	NP_861968.1:p.Asp369Val
NM_181831.2:c.1106A>T	NP_861969.1:p.Asp369Val
NM_181832.2:c.1355A>T	NP_861970.1:p.Asp452Val
NM_181833.2:c.448-19902A>T	NP_861971.1:n.448-19902A>T
NR_156186.1:n.1914A>T
XM_017028809.2:c.1241A>T	XP_016884298.1:p.Asp414Val
XM_017028810.1:c.1241A>T	XP_016884299.1:p.Asp414Val
NM_000268.4:c.1355A>T MANE Select	NP_000259.1:p.Asp452Val
NM_181825.3:c.1355A>T	NP_861546.1:p.Asp452Val
NM_181828.3:c.1229A>T	NP_861966.1:p.Asp410Val
NM_181829.3:c.1232A>T	NP_861967.1:p.Asp411Val
NM_181830.3:c.1106A>T	NP_861968.1:p.Asp369Val
NM_181831.3:c.1106A>T	NP_861969.1:p.Asp369Val
NM_181832.3:c.1355A>T	NP_861970.1:p.Asp452Val
NR_156186.2:n.1837A>T
NM_181833.3:c.448-19902A>T	NP_861971.1:n.448-19902A>T