Canonical Allele Identifier: CA323128243

Gene: NF2

Linked Data

• dbSNP Id: rs973814756
• gnomAD v2: 22-30091333-C-T
• gnomAD v3: 22-29695344-C-T
• gnomAD v4: 22-29695344-C-T
• COSMIC: COSN24559567
• MyVariant Identifiers: chr22:g.30091333C>T (hg19) ; chr22:g.29695344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695344C>T , CM000684.2:g.29695344C>T	GRCh38
NC_000022.10:g.30091333C>T , CM000684.1:g.30091333C>T	GRCh37
NC_000022.9:g.28421333C>T	NCBI36
NG_009057.1:g.96789C>T , LRG_511:g.96789C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*542C>T MANE Select	ENSP00000344666.5:n.*542C>T
ENST00000672461.1:c.*501+101C>T	ENSP00000500919.1:n.*501+101C>T
ENST00000672896.1:c.*602C>T	ENSP00000500117.1:n.*602C>T
ENST00000338641.8:c.*542C>T	ENSP00000344666.4:n.*542C>T
ENST00000361452.8:c.*602C>T	ENSP00000354897.4:n.*602C>T
ENST00000413209.6:c.*542C>T	ENSP00000409921.2:n.*542C>T
NM_000268.3:c.*542C>T , LRG_511t1:c.*542C>T	NP_000259.1:n.*542C>T
NM_016418.5:c.*602C>T , LRG_511t2:c.*602C>T	NP_057502.2:n.*602C>T
NM_181828.2:c.*602C>T	NP_861966.1:n.*602C>T
NM_181829.2:c.*602C>T	NP_861967.1:n.*602C>T
NM_181830.2:c.*602C>T	NP_861968.1:n.*602C>T
NM_181832.2:c.*617C>T	NP_861970.1:n.*617C>T
NM_181833.2:c.*542C>T	NP_861971.1:n.*542C>T
NR_156186.1:n.2889C>T
XM_017028810.1:c.*602C>T	XP_016884299.1:n.*602C>T
NM_000268.4:c.*542C>T MANE Select	NP_000259.1:n.*542C>T
NM_181828.3:c.*602C>T	NP_861966.1:n.*602C>T
NM_181829.3:c.*602C>T	NP_861967.1:n.*602C>T
NM_181830.3:c.*602C>T	NP_861968.1:n.*602C>T
NM_181832.3:c.*617C>T	NP_861970.1:n.*617C>T
NR_156186.2:n.2812C>T
NM_181833.3:c.*542C>T	NP_861971.1:n.*542C>T