Canonical Allele Identifier: CA2656033483

Gene: NF2

Linked Data

• gnomAD v4: 22-29695245-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695245T>C , CM000684.2:g.29695245T>C	GRCh38
NC_000022.10:g.30091234T>C , CM000684.1:g.30091234T>C	GRCh37
NC_000022.9:g.28421234T>C	NCBI36
NG_009057.1:g.96690T>C , LRG_511:g.96690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*443T>C MANE Select	ENSP00000344666.5:n.*443T>C
ENST00000672461.1:c.*501+2T>C	ENSP00000500919.1:n.*501+2T>C
ENST00000672896.1:c.*503T>C	ENSP00000500117.1:n.*503T>C
ENST00000338641.8:c.*443T>C	ENSP00000344666.4:n.*443T>C
ENST00000361452.8:c.*503T>C	ENSP00000354897.4:n.*503T>C
ENST00000413209.6:c.*443T>C	ENSP00000409921.2:n.*443T>C
NM_000268.3:c.*443T>C , LRG_511t1:c.*443T>C	NP_000259.1:n.*443T>C
NM_016418.5:c.*503T>C , LRG_511t2:c.*503T>C	NP_057502.2:n.*503T>C
NM_181828.2:c.*503T>C	NP_861966.1:n.*503T>C
NM_181829.2:c.*503T>C	NP_861967.1:n.*503T>C
NM_181830.2:c.*503T>C	NP_861968.1:n.*503T>C
NM_181832.2:c.*518T>C	NP_861970.1:n.*518T>C
NM_181833.2:c.*443T>C	NP_861971.1:n.*443T>C
NR_156186.1:n.2790T>C
XM_017028810.1:c.*503T>C	XP_016884299.1:n.*503T>C
NM_000268.4:c.*443T>C MANE Select	NP_000259.1:n.*443T>C
NM_181828.3:c.*503T>C	NP_861966.1:n.*503T>C
NM_181829.3:c.*503T>C	NP_861967.1:n.*503T>C
NM_181830.3:c.*503T>C	NP_861968.1:n.*503T>C
NM_181832.3:c.*518T>C	NP_861970.1:n.*518T>C
NR_156186.2:n.2713T>C
NM_181833.3:c.*443T>C	NP_861971.1:n.*443T>C