Canonical Allele Identifier: CA323127903

Gene: NF2

Linked Data

• ClinVar Variation Id: 901420
• ClinVar RCV Id: RCV001147283
• dbSNP Id: rs754717476
• gnomAD v2: 22-30090980-A-C
• gnomAD v3: 22-29694991-A-C
• gnomAD v4: 22-29694991-A-C
• MyVariant Identifiers: chr22:g.30090980A>C (hg19) ; chr22:g.29694991A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694991A>C , CM000684.2:g.29694991A>C	GRCh38
NC_000022.10:g.30090980A>C , CM000684.1:g.30090980A>C	GRCh37
NC_000022.9:g.28420980A>C	NCBI36
NG_009057.1:g.96436A>C , LRG_511:g.96436A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*189A>C	ENSP00000354529.6:n.*189A>C
ENST00000673312.2:c.*1471A>C	ENSP00000500186.2:n.*1471A>C
ENST00000338641.10:c.*189A>C MANE Select	ENSP00000344666.5:n.*189A>C
ENST00000361166.9:c.1395A>C	ENSP00000354529.5:n.1395A>C
ENST00000672461.1:c.*249A>C	ENSP00000500919.1:n.*249A>C
ENST00000672896.1:c.*249A>C	ENSP00000500117.1:n.*249A>C
ENST00000673312.1:c.1996A>C	ENSP00000500186.1:n.1996A>C
ENST00000338641.8:c.*189A>C	ENSP00000344666.4:n.*189A>C
ENST00000361452.8:c.*249A>C	ENSP00000354897.4:n.*249A>C
ENST00000413209.6:c.*189A>C	ENSP00000409921.2:n.*189A>C
NM_000268.3:c.*189A>C , LRG_511t1:c.*189A>C	NP_000259.1:n.*189A>C
NM_016418.5:c.*249A>C , LRG_511t2:c.*249A>C	NP_057502.2:n.*249A>C
NM_181828.2:c.*249A>C	NP_861966.1:n.*249A>C
NM_181829.2:c.*249A>C	NP_861967.1:n.*249A>C
NM_181830.2:c.*249A>C	NP_861968.1:n.*249A>C
NM_181832.2:c.*264A>C	NP_861970.1:n.*264A>C
NM_181833.2:c.*189A>C	NP_861971.1:n.*189A>C
NR_156186.1:n.2536A>C
XM_017028809.2:c.*189A>C	XP_016884298.1:n.*189A>C
XM_017028810.1:c.*249A>C	XP_016884299.1:n.*249A>C
NM_000268.4:c.*189A>C MANE Select	NP_000259.1:n.*189A>C
NM_181828.3:c.*249A>C	NP_861966.1:n.*249A>C
NM_181829.3:c.*249A>C	NP_861967.1:n.*249A>C
NM_181830.3:c.*249A>C	NP_861968.1:n.*249A>C
NM_181832.3:c.*264A>C	NP_861970.1:n.*264A>C
NR_156186.2:n.2459A>C
NM_181833.3:c.*189A>C	NP_861971.1:n.*189A>C