Canonical Allele Identifier: CA2400693954
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs2067608541

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29698251T>C , CM000684.2:g.29698251T>C GRCh38
NC_000022.10:g.30094240T>C , CM000684.1:g.30094240T>C GRCh37
NC_000022.9:g.28424240T>C NCBI36
NG_009057.1:g.99696T>C , LRG_511:g.99696T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*3449T>C MANE Select ENSP00000344666.5:n.*3449T>C
ENST00000672896.1:c.*3509T>C ENSP00000500117.1:n.*3509T>C
ENST00000338641.8:c.*3449T>C ENSP00000344666.4:n.*3449T>C
ENST00000361452.8:c.*3509T>C ENSP00000354897.4:n.*3509T>C
ENST00000413209.6:c.*3449T>C ENSP00000409921.2:n.*3449T>C
NM_000268.3:c.*3449T>C , LRG_511t1:c.*3449T>C NP_000259.1:n.*3449T>C
NM_016418.5:c.*3509T>C , LRG_511t2:c.*3509T>C NP_057502.2:n.*3509T>C
NM_181828.2:c.*3509T>C NP_861966.1:n.*3509T>C
NM_181829.2:c.*3509T>C NP_861967.1:n.*3509T>C
NM_181830.2:c.*3509T>C NP_861968.1:n.*3509T>C
NM_181832.2:c.*3524T>C NP_861970.1:n.*3524T>C
NM_181833.2:c.*3449T>C NP_861971.1:n.*3449T>C
NR_156186.1:n.5796T>C
XM_017028810.1:c.*3509T>C XP_016884299.1:n.*3509T>C
NM_000268.4:c.*3449T>C MANE Select NP_000259.1:n.*3449T>C
NM_181828.3:c.*3509T>C NP_861966.1:n.*3509T>C
NM_181829.3:c.*3509T>C NP_861967.1:n.*3509T>C
NM_181830.3:c.*3509T>C NP_861968.1:n.*3509T>C
NM_181832.3:c.*3524T>C NP_861970.1:n.*3524T>C
NR_156186.2:n.5719T>C
NM_181833.3:c.*3449T>C NP_861971.1:n.*3449T>C