Canonical Allele Identifier: CA2400669579
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29642270C= , CM000684.2:g.29642270C= GRCh38
NC_000022.10:g.30038259C= , CM000684.1:g.30038259C= GRCh37
NC_000022.9:g.28368259C= NCBI36
NG_009057.1:g.43715C= , LRG_511:g.43715C=

Transcript Alleles

HGVS Amino-acid Change
NM_000268.4:c.432C= MANE Select NP_000259.1:p.Tyr144=
ENST00000338641.10:c.432C= MANE Select ENSP00000344666.5:p.Tyr144=
NM_000268.3:c.432C= , LRG_511t1:c.432C= NP_000259.1:p.Tyr144=
NM_016418.5:c.432C= , LRG_511t2:c.432C= NP_057502.2:p.Tyr144=
NM_181825.2:c.432C= NP_861546.1:p.Tyr144=
NM_181825.3:c.432C= NP_861546.1:p.Tyr144=
NM_181828.2:c.306C= NP_861966.1:p.Tyr102=
NM_181828.3:c.306C= NP_861966.1:p.Tyr102=
NM_181829.2:c.309C= NP_861967.1:p.Tyr103=
NM_181829.3:c.309C= NP_861967.1:p.Tyr103=
NM_181830.2:c.183C= NP_861968.1:p.Tyr61=
NM_181830.3:c.183C= NP_861968.1:p.Tyr61=
NM_181831.2:c.183C= NP_861969.1:p.Tyr61=
NM_181831.3:c.183C= NP_861969.1:p.Tyr61=
NM_181832.2:c.432C= NP_861970.1:p.Tyr144=
NM_181832.3:c.432C= NP_861970.1:p.Tyr144=
NM_181833.2:c.432C= NP_861971.1:p.Tyr144=
NM_181833.3:c.432C= NP_861971.1:p.Tyr144=
NR_156186.1:n.991C=
NR_156186.2:n.914C=
ENST00000334961.11:c.183C= ENSP00000335652.7:p.Tyr61=
ENST00000338641.8:c.432C= ENSP00000344666.4:p.Tyr144=
ENST00000353887.8:c.183C= ENSP00000340626.4:p.Tyr61=
ENST00000361166.10:c.432C= ENSP00000354529.6:p.Tyr144=
ENST00000361166.8:c.432C= ENSP00000354529.4:p.Tyr144=
ENST00000361452.8:c.309C= ENSP00000354897.4:p.Tyr103=
ENST00000361676.8:c.306C= ENSP00000355183.4:p.Tyr102=
ENST00000397789.3:c.432C= ENSP00000380891.3:p.Tyr144=
ENST00000403435.5:c.432C= ENSP00000384029.1:p.Tyr144=
ENST00000403999.7:c.432C= ENSP00000384797.3:p.Tyr144=
ENST00000413209.6:c.432C= ENSP00000409921.2:p.Tyr144=
ENST00000432151.5:c.183C= ENSP00000395885.1:p.Tyr61=
ENST00000672461.1:c.432C= ENSP00000500919.1:p.Tyr144=
ENST00000672805.1:c.*314C= ENSP00000500295.1:n.*314C=
ENST00000672896.1:c.432C= ENSP00000500117.1:p.Tyr144=
ENST00000673312.1:c.345C= ENSP00000500186.1:p.Tyr115=
ENST00000673312.2:c.432C= ENSP00000500186.2:p.Tyr144=
XM_017028809.2:c.318C= XP_016884298.1:p.Tyr106=
XM_017028810.1:c.318C= XP_016884299.1:p.Tyr106=