Canonical Allele Identifier: CA10645277
Gene: NF2 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.29697289A>G
GRCh37 chr22:g.30093278A>G
gnomAD v2:
22:30093278 A / G
gnomAD v3:
22:29697289 A / G
gnomAD v4:
chr22-29697289-A-G
Joint Max Group AF 0.0076572 (AMR)
Genomes Max Group AF 0.00773463 (AMR)
Exomes Max Group AF 0.00413456 (AMR)
ClinVar Allele:
337775
ClinVar RCV:
RCV000359316
ClinVar Variation:
341150
dbSNP:
550207111
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29697289A>G , CM000684.2:g.29697289A>G GRCh38
NC_000022.10:g.30093278A>G , CM000684.1:g.30093278A>G GRCh37
NC_000022.9:g.28423278A>G NCBI36
NG_009057.1:g.98734A>G , LRG_511:g.98734A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*2487A>G MANE Select ENSP00000344666.5:n.*2487A>G
ENST00000672461.1:c.*530A>G ENSP00000500919.1:n.*530A>G
ENST00000672896.1:c.*2547A>G ENSP00000500117.1:n.*2547A>G
ENST00000338641.8:c.*2487A>G ENSP00000344666.4:n.*2487A>G
ENST00000361452.8:c.*2547A>G ENSP00000354897.4:n.*2547A>G
ENST00000413209.6:c.*2487A>G ENSP00000409921.2:n.*2487A>G
NM_000268.3:c.*2487A>G , LRG_511t1:c.*2487A>G NP_000259.1:n.*2487A>G
NM_016418.5:c.*2547A>G , LRG_511t2:c.*2547A>G NP_057502.2:n.*2547A>G
NM_181828.2:c.*2547A>G NP_861966.1:n.*2547A>G
NM_181829.2:c.*2547A>G NP_861967.1:n.*2547A>G
NM_181830.2:c.*2547A>G NP_861968.1:n.*2547A>G
NM_181832.2:c.*2562A>G NP_861970.1:n.*2562A>G
NM_181833.2:c.*2487A>G NP_861971.1:n.*2487A>G
NR_156186.1:n.4834A>G
XM_017028810.1:c.*2547A>G XP_016884299.1:n.*2547A>G
NM_000268.4:c.*2487A>G MANE Select NP_000259.1:n.*2487A>G
NM_181828.3:c.*2547A>G NP_861966.1:n.*2547A>G
NM_181829.3:c.*2547A>G NP_861967.1:n.*2547A>G
NM_181830.3:c.*2547A>G NP_861968.1:n.*2547A>G
NM_181832.3:c.*2562A>G NP_861970.1:n.*2562A>G
NR_156186.2:n.4757A>G
NM_181833.3:c.*2487A>G NP_861971.1:n.*2487A>G
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