Canonical Allele Identifier: CA2400682579
Community Standard Title: NM_000268.4(NF2):c.1079T= (p.Leu360=)
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29671905T= , CM000684.2:g.29671905T= GRCh38
NC_000022.10:g.30067894T= , CM000684.1:g.30067894T= GRCh37
NC_000022.9:g.28397894T= NCBI36
NG_009057.1:g.73350T= , LRG_511:g.73350T=

Transcript Alleles

HGVS Amino-acid Change
NM_000268.4:c.1079T= MANE Select NP_000259.1:p.Leu360=
ENST00000338641.10:c.1079T= MANE Select ENSP00000344666.5:p.Leu360=
NM_000268.3:c.1079T= , LRG_511t1:c.1079T= NP_000259.1:p.Leu360=
NM_016418.5:c.1079T= , LRG_511t2:c.1079T= NP_057502.2:p.Leu360=
NM_181825.2:c.1079T= NP_861546.1:p.Leu360=
NM_181825.3:c.1079T= NP_861546.1:p.Leu360=
NM_181828.2:c.953T= NP_861966.1:p.Leu318=
NM_181828.3:c.953T= NP_861966.1:p.Leu318=
NM_181829.2:c.956T= NP_861967.1:p.Leu319=
NM_181829.3:c.956T= NP_861967.1:p.Leu319=
NM_181830.2:c.830T= NP_861968.1:p.Leu277=
NM_181830.3:c.830T= NP_861968.1:p.Leu277=
NM_181831.2:c.830T= NP_861969.1:p.Leu277=
NM_181831.3:c.830T= NP_861969.1:p.Leu277=
NM_181832.2:c.1079T= NP_861970.1:p.Leu360=
NM_181832.3:c.1079T= NP_861970.1:p.Leu360=
NM_181833.2:c.448-22847T= NP_861971.1:n.448-22847T=
NM_181833.3:c.448-22847T= NP_861971.1:n.448-22847T=
NR_156186.1:n.1638T=
NR_156186.2:n.1561T=
ENST00000334961.11:c.830T= ENSP00000335652.7:p.Leu277=
ENST00000338641.8:c.1079T= ENSP00000344666.4:p.Leu360=
ENST00000353887.8:c.830T= ENSP00000340626.4:p.Leu277=
ENST00000361166.10:c.944T= ENSP00000354529.6:p.Leu315=
ENST00000361166.8:c.1079T= ENSP00000354529.4:p.Leu360=
ENST00000361166.9:c.497T= ENSP00000354529.5:p.Leu166=
ENST00000361452.8:c.956T= ENSP00000354897.4:p.Leu319=
ENST00000361676.8:c.953T= ENSP00000355183.4:p.Leu318=
ENST00000397789.3:c.1079T= ENSP00000380891.3:p.Leu360=
ENST00000403435.5:c.1000-8T= ENSP00000384029.1:n.1000-8T=
ENST00000403999.7:c.1079T= ENSP00000384797.3:p.Leu360=
ENST00000413209.6:c.448-22847T= ENSP00000409921.2:n.448-22847T=
ENST00000432151.5:c.523-2931T= ENSP00000395885.1:n.523-2931T=
ENST00000672461.1:c.1079T= ENSP00000500919.1:p.Leu360=
ENST00000672805.1:c.*961T= ENSP00000500295.1:n.*961T=
ENST00000672896.1:c.1079T= ENSP00000500117.1:p.Leu360=
ENST00000673312.1:c.1098T= ENSP00000500186.1:n.1098T=
ENST00000673312.2:c.*573T= ENSP00000500186.2:n.*573T=
XM_017028809.2:c.965T= XP_016884298.1:p.Leu322=
XM_017028810.1:c.965T= XP_016884299.1:p.Leu322=