Canonical Allele Identifier: CA2656033701

Gene: NF2

Linked Data

• gnomAD v4: 22-29695355-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695355T>C , CM000684.2:g.29695355T>C	GRCh38
NC_000022.10:g.30091344T>C , CM000684.1:g.30091344T>C	GRCh37
NC_000022.9:g.28421344T>C	NCBI36
NG_009057.1:g.96800T>C , LRG_511:g.96800T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*553T>C MANE Select	ENSP00000344666.5:n.*553T>C
ENST00000672461.1:c.*501+112T>C	ENSP00000500919.1:n.*501+112T>C
ENST00000672896.1:c.*613T>C	ENSP00000500117.1:n.*613T>C
ENST00000338641.8:c.*553T>C	ENSP00000344666.4:n.*553T>C
ENST00000361452.8:c.*613T>C	ENSP00000354897.4:n.*613T>C
ENST00000413209.6:c.*553T>C	ENSP00000409921.2:n.*553T>C
NM_000268.3:c.*553T>C , LRG_511t1:c.*553T>C	NP_000259.1:n.*553T>C
NM_016418.5:c.*613T>C , LRG_511t2:c.*613T>C	NP_057502.2:n.*613T>C
NM_181828.2:c.*613T>C	NP_861966.1:n.*613T>C
NM_181829.2:c.*613T>C	NP_861967.1:n.*613T>C
NM_181830.2:c.*613T>C	NP_861968.1:n.*613T>C
NM_181832.2:c.*628T>C	NP_861970.1:n.*628T>C
NM_181833.2:c.*553T>C	NP_861971.1:n.*553T>C
NR_156186.1:n.2900T>C
XM_017028810.1:c.*613T>C	XP_016884299.1:n.*613T>C
NM_000268.4:c.*553T>C MANE Select	NP_000259.1:n.*553T>C
NM_181828.3:c.*613T>C	NP_861966.1:n.*613T>C
NM_181829.3:c.*613T>C	NP_861967.1:n.*613T>C
NM_181830.3:c.*613T>C	NP_861968.1:n.*613T>C
NM_181832.3:c.*628T>C	NP_861970.1:n.*628T>C
NR_156186.2:n.2823T>C
NM_181833.3:c.*553T>C	NP_861971.1:n.*553T>C