Canonical Allele Identifier: CA2656035395

Gene: NF2

Linked Data

• gnomAD v4: 22-29696247-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696247G>T , CM000684.2:g.29696247G>T	GRCh38
NC_000022.10:g.30092236G>T , CM000684.1:g.30092236G>T	GRCh37
NC_000022.9:g.28422236G>T	NCBI36
NG_009057.1:g.97692G>T , LRG_511:g.97692G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*1445G>T MANE Select	ENSP00000344666.5:n.*1445G>T
ENST00000672461.1:c.*501+1004G>T	ENSP00000500919.1:n.*501+1004G>T
ENST00000672896.1:c.*1505G>T	ENSP00000500117.1:n.*1505G>T
ENST00000338641.8:c.*1445G>T	ENSP00000344666.4:n.*1445G>T
ENST00000361452.8:c.*1505G>T	ENSP00000354897.4:n.*1505G>T
ENST00000413209.6:c.*1445G>T	ENSP00000409921.2:n.*1445G>T
NM_000268.3:c.*1445G>T , LRG_511t1:c.*1445G>T	NP_000259.1:n.*1445G>T
NM_016418.5:c.*1505G>T , LRG_511t2:c.*1505G>T	NP_057502.2:n.*1505G>T
NM_181828.2:c.*1505G>T	NP_861966.1:n.*1505G>T
NM_181829.2:c.*1505G>T	NP_861967.1:n.*1505G>T
NM_181830.2:c.*1505G>T	NP_861968.1:n.*1505G>T
NM_181832.2:c.*1520G>T	NP_861970.1:n.*1520G>T
NM_181833.2:c.*1445G>T	NP_861971.1:n.*1445G>T
NR_156186.1:n.3792G>T
XM_017028810.1:c.*1505G>T	XP_016884299.1:n.*1505G>T
NM_000268.4:c.*1445G>T MANE Select	NP_000259.1:n.*1445G>T
NM_181828.3:c.*1505G>T	NP_861966.1:n.*1505G>T
NM_181829.3:c.*1505G>T	NP_861967.1:n.*1505G>T
NM_181830.3:c.*1505G>T	NP_861968.1:n.*1505G>T
NM_181832.3:c.*1520G>T	NP_861970.1:n.*1520G>T
NR_156186.2:n.3715G>T
NM_181833.3:c.*1445G>T	NP_861971.1:n.*1445G>T