Canonical Allele Identifier: CA2656035249

Gene: NF2

Linked Data

• gnomAD v4: 22-29696185-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696185T>C , CM000684.2:g.29696185T>C	GRCh38
NC_000022.10:g.30092174T>C , CM000684.1:g.30092174T>C	GRCh37
NC_000022.9:g.28422174T>C	NCBI36
NG_009057.1:g.97630T>C , LRG_511:g.97630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1383T>C MANE Select	ENSP00000344666.5:n.*1383T>C
ENST00000672461.1:c.*501+942T>C	ENSP00000500919.1:n.*501+942T>C
ENST00000672896.1:c.*1443T>C	ENSP00000500117.1:n.*1443T>C
ENST00000338641.8:c.*1383T>C	ENSP00000344666.4:n.*1383T>C
ENST00000361452.8:c.*1443T>C	ENSP00000354897.4:n.*1443T>C
ENST00000413209.6:c.*1383T>C	ENSP00000409921.2:n.*1383T>C
NM_000268.3:c.*1383T>C , LRG_511t1:c.*1383T>C	NP_000259.1:n.*1383T>C
NM_016418.5:c.*1443T>C , LRG_511t2:c.*1443T>C	NP_057502.2:n.*1443T>C
NM_181828.2:c.*1443T>C	NP_861966.1:n.*1443T>C
NM_181829.2:c.*1443T>C	NP_861967.1:n.*1443T>C
NM_181830.2:c.*1443T>C	NP_861968.1:n.*1443T>C
NM_181832.2:c.*1458T>C	NP_861970.1:n.*1458T>C
NM_181833.2:c.*1383T>C	NP_861971.1:n.*1383T>C
NR_156186.1:n.3730T>C
XM_017028810.1:c.*1443T>C	XP_016884299.1:n.*1443T>C
NM_000268.4:c.*1383T>C MANE Select	NP_000259.1:n.*1383T>C
NM_181828.3:c.*1443T>C	NP_861966.1:n.*1443T>C
NM_181829.3:c.*1443T>C	NP_861967.1:n.*1443T>C
NM_181830.3:c.*1443T>C	NP_861968.1:n.*1443T>C
NM_181832.3:c.*1458T>C	NP_861970.1:n.*1458T>C
NR_156186.2:n.3653T>C
NM_181833.3:c.*1383T>C	NP_861971.1:n.*1383T>C