Canonical Allele Identifier: CA323127844

Gene: NF2

Linked Data

• dbSNP Id: rs969810013
• gnomAD v4: 22-29694893-C-A
• MyVariant Identifiers: chr22:g.30090882C>A (hg19) ; chr22:g.29694893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694893C>A , CM000684.2:g.29694893C>A	GRCh38
NC_000022.10:g.30090882C>A , CM000684.1:g.30090882C>A	GRCh37
NC_000022.9:g.28420882C>A	NCBI36
NG_009057.1:g.96338C>A , LRG_511:g.96338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*91C>A	ENSP00000354529.6:n.*91C>A
ENST00000673312.2:c.*1373C>A	ENSP00000500186.2:n.*1373C>A
ENST00000338641.10:c.*91C>A MANE Select	ENSP00000344666.5:n.*91C>A
ENST00000361166.9:c.1297C>A	ENSP00000354529.5:n.1297C>A
ENST00000672461.1:c.*151C>A	ENSP00000500919.1:n.*151C>A
ENST00000672805.1:c.*1761C>A	ENSP00000500295.1:n.*1761C>A
ENST00000672896.1:c.*151C>A	ENSP00000500117.1:n.*151C>A
ENST00000673312.1:c.1898C>A	ENSP00000500186.1:n.1898C>A
ENST00000338641.8:c.*91C>A	ENSP00000344666.4:n.*91C>A
ENST00000361452.8:c.*151C>A	ENSP00000354897.4:n.*151C>A
ENST00000413209.6:c.*91C>A	ENSP00000409921.2:n.*91C>A
ENST00000432151.5:c.*235C>A	ENSP00000395885.1:n.*235C>A
NM_000268.3:c.*91C>A , LRG_511t1:c.*91C>A	NP_000259.1:n.*91C>A
NM_016418.5:c.*151C>A , LRG_511t2:c.*151C>A	NP_057502.2:n.*151C>A
NM_181828.2:c.*151C>A	NP_861966.1:n.*151C>A
NM_181829.2:c.*151C>A	NP_861967.1:n.*151C>A
NM_181830.2:c.*151C>A	NP_861968.1:n.*151C>A
NM_181832.2:c.*166C>A	NP_861970.1:n.*166C>A
NM_181833.2:c.*91C>A	NP_861971.1:n.*91C>A
NR_156186.1:n.2438C>A
XM_017028809.2:c.*91C>A	XP_016884298.1:n.*91C>A
XM_017028810.1:c.*151C>A	XP_016884299.1:n.*151C>A
NM_000268.4:c.*91C>A MANE Select	NP_000259.1:n.*91C>A
NM_181828.3:c.*151C>A	NP_861966.1:n.*151C>A
NM_181829.3:c.*151C>A	NP_861967.1:n.*151C>A
NM_181830.3:c.*151C>A	NP_861968.1:n.*151C>A
NM_181832.3:c.*166C>A	NP_861970.1:n.*166C>A
NR_156186.2:n.2361C>A
NM_181833.3:c.*91C>A	NP_861971.1:n.*91C>A