Canonical Allele Identifier: CA2400692389
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694991A= , CM000684.2:g.29694991A= GRCh38
NC_000022.10:g.30090980A= , CM000684.1:g.30090980A= GRCh37
NC_000022.9:g.28420980A= NCBI36
NG_009057.1:g.96436A= , LRG_511:g.96436A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*189A= ENSP00000354529.6:n.*189A=
ENST00000673312.2:c.*1471A= ENSP00000500186.2:n.*1471A=
ENST00000338641.10:c.*189A= MANE Select ENSP00000344666.5:n.*189A=
ENST00000361166.9:c.1395A= ENSP00000354529.5:n.1395A=
ENST00000672461.1:c.*249A= ENSP00000500919.1:n.*249A=
ENST00000672896.1:c.*249A= ENSP00000500117.1:n.*249A=
ENST00000673312.1:c.1996A= ENSP00000500186.1:n.1996A=
ENST00000338641.8:c.*189A= ENSP00000344666.4:n.*189A=
ENST00000361452.8:c.*249A= ENSP00000354897.4:n.*249A=
ENST00000413209.6:c.*189A= ENSP00000409921.2:n.*189A=
NM_000268.3:c.*189A= , LRG_511t1:c.*189A= NP_000259.1:n.*189A=
NM_016418.5:c.*249A= , LRG_511t2:c.*249A= NP_057502.2:n.*249A=
NM_181828.2:c.*249A= NP_861966.1:n.*249A=
NM_181829.2:c.*249A= NP_861967.1:n.*249A=
NM_181830.2:c.*249A= NP_861968.1:n.*249A=
NM_181832.2:c.*264A= NP_861970.1:n.*264A=
NM_181833.2:c.*189A= NP_861971.1:n.*189A=
NR_156186.1:n.2536A=
XM_017028809.2:c.*189A= XP_016884298.1:n.*189A=
XM_017028810.1:c.*249A= XP_016884299.1:n.*249A=
NM_000268.4:c.*189A= MANE Select NP_000259.1:n.*189A=
NM_181828.3:c.*249A= NP_861966.1:n.*249A=
NM_181829.3:c.*249A= NP_861967.1:n.*249A=
NM_181830.3:c.*249A= NP_861968.1:n.*249A=
NM_181832.3:c.*264A= NP_861970.1:n.*264A=
NR_156186.2:n.2459A=
NM_181833.3:c.*189A= NP_861971.1:n.*189A=