Canonical Allele Identifier: CA752250419

Gene: NF2

Linked Data

• dbSNP Id: rs577882884
• MyVariant Identifiers: chr22:g.30091267C>G (hg19) ; chr22:g.29695278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695278C>G , CM000684.2:g.29695278C>G	GRCh38
NC_000022.10:g.30091267C>G , CM000684.1:g.30091267C>G	GRCh37
NC_000022.9:g.28421267C>G	NCBI36
NG_009057.1:g.96723C>G , LRG_511:g.96723C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*476C>G MANE Select	ENSP00000344666.5:n.*476C>G
ENST00000672461.1:c.*501+35C>G	ENSP00000500919.1:n.*501+35C>G
ENST00000672896.1:c.*536C>G	ENSP00000500117.1:n.*536C>G
ENST00000338641.8:c.*476C>G	ENSP00000344666.4:n.*476C>G
ENST00000361452.8:c.*536C>G	ENSP00000354897.4:n.*536C>G
ENST00000413209.6:c.*476C>G	ENSP00000409921.2:n.*476C>G
NM_000268.3:c.*476C>G , LRG_511t1:c.*476C>G	NP_000259.1:n.*476C>G
NM_016418.5:c.*536C>G , LRG_511t2:c.*536C>G	NP_057502.2:n.*536C>G
NM_181828.2:c.*536C>G	NP_861966.1:n.*536C>G
NM_181829.2:c.*536C>G	NP_861967.1:n.*536C>G
NM_181830.2:c.*536C>G	NP_861968.1:n.*536C>G
NM_181832.2:c.*551C>G	NP_861970.1:n.*551C>G
NM_181833.2:c.*476C>G	NP_861971.1:n.*476C>G
NR_156186.1:n.2823C>G
XM_017028810.1:c.*536C>G	XP_016884299.1:n.*536C>G
NM_000268.4:c.*476C>G MANE Select	NP_000259.1:n.*476C>G
NM_181828.3:c.*536C>G	NP_861966.1:n.*536C>G
NM_181829.3:c.*536C>G	NP_861967.1:n.*536C>G
NM_181830.3:c.*536C>G	NP_861968.1:n.*536C>G
NM_181832.3:c.*551C>G	NP_861970.1:n.*551C>G
NR_156186.2:n.2746C>G
NM_181833.3:c.*476C>G	NP_861971.1:n.*476C>G