Canonical Allele Identifier: CA638997274

Gene: NF2

Linked Data

• dbSNP Id: rs918249947
• gnomAD v2: 22-30091334-G-C
• gnomAD v3: 22-29695345-G-C
• gnomAD v4: 22-29695345-G-C
• MyVariant Identifiers: chr22:g.30091334G>C (hg19) ; chr22:g.29695345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695345G>C , CM000684.2:g.29695345G>C	GRCh38
NC_000022.10:g.30091334G>C , CM000684.1:g.30091334G>C	GRCh37
NC_000022.9:g.28421334G>C	NCBI36
NG_009057.1:g.96790G>C , LRG_511:g.96790G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*543G>C MANE Select	ENSP00000344666.5:n.*543G>C
ENST00000672461.1:c.*501+102G>C	ENSP00000500919.1:n.*501+102G>C
ENST00000672896.1:c.*603G>C	ENSP00000500117.1:n.*603G>C
ENST00000338641.8:c.*543G>C	ENSP00000344666.4:n.*543G>C
ENST00000361452.8:c.*603G>C	ENSP00000354897.4:n.*603G>C
ENST00000413209.6:c.*543G>C	ENSP00000409921.2:n.*543G>C
NM_000268.3:c.*543G>C , LRG_511t1:c.*543G>C	NP_000259.1:n.*543G>C
NM_016418.5:c.*603G>C , LRG_511t2:c.*603G>C	NP_057502.2:n.*603G>C
NM_181828.2:c.*603G>C	NP_861966.1:n.*603G>C
NM_181829.2:c.*603G>C	NP_861967.1:n.*603G>C
NM_181830.2:c.*603G>C	NP_861968.1:n.*603G>C
NM_181832.2:c.*618G>C	NP_861970.1:n.*618G>C
NM_181833.2:c.*543G>C	NP_861971.1:n.*543G>C
NR_156186.1:n.2890G>C
XM_017028810.1:c.*603G>C	XP_016884299.1:n.*603G>C
NM_000268.4:c.*543G>C MANE Select	NP_000259.1:n.*543G>C
NM_181828.3:c.*603G>C	NP_861966.1:n.*603G>C
NM_181829.3:c.*603G>C	NP_861967.1:n.*603G>C
NM_181830.3:c.*603G>C	NP_861968.1:n.*603G>C
NM_181832.3:c.*618G>C	NP_861970.1:n.*618G>C
NR_156186.2:n.2813G>C
NM_181833.3:c.*543G>C	NP_861971.1:n.*543G>C