Canonical Allele Identifier: CA323128348

Gene: NF2

Linked Data

• dbSNP Id: rs781112228
• gnomAD v3: 22-29695449-A-G
• gnomAD v4: 22-29695449-A-G
• MyVariant Identifiers: chr22:g.30091438A>G (hg19) ; chr22:g.29695449A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695449A>G , CM000684.2:g.29695449A>G	GRCh38
NC_000022.10:g.30091438A>G , CM000684.1:g.30091438A>G	GRCh37
NC_000022.9:g.28421438A>G	NCBI36
NG_009057.1:g.96894A>G , LRG_511:g.96894A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*647A>G MANE Select	ENSP00000344666.5:n.*647A>G
ENST00000672461.1:c.*501+206A>G	ENSP00000500919.1:n.*501+206A>G
ENST00000672896.1:c.*707A>G	ENSP00000500117.1:n.*707A>G
ENST00000338641.8:c.*647A>G	ENSP00000344666.4:n.*647A>G
ENST00000361452.8:c.*707A>G	ENSP00000354897.4:n.*707A>G
ENST00000413209.6:c.*647A>G	ENSP00000409921.2:n.*647A>G
NM_000268.3:c.*647A>G , LRG_511t1:c.*647A>G	NP_000259.1:n.*647A>G
NM_016418.5:c.*707A>G , LRG_511t2:c.*707A>G	NP_057502.2:n.*707A>G
NM_181828.2:c.*707A>G	NP_861966.1:n.*707A>G
NM_181829.2:c.*707A>G	NP_861967.1:n.*707A>G
NM_181830.2:c.*707A>G	NP_861968.1:n.*707A>G
NM_181832.2:c.*722A>G	NP_861970.1:n.*722A>G
NM_181833.2:c.*647A>G	NP_861971.1:n.*647A>G
NR_156186.1:n.2994A>G
XM_017028810.1:c.*707A>G	XP_016884299.1:n.*707A>G
NM_000268.4:c.*647A>G MANE Select	NP_000259.1:n.*647A>G
NM_181828.3:c.*707A>G	NP_861966.1:n.*707A>G
NM_181829.3:c.*707A>G	NP_861967.1:n.*707A>G
NM_181830.3:c.*707A>G	NP_861968.1:n.*707A>G
NM_181832.3:c.*722A>G	NP_861970.1:n.*722A>G
NR_156186.2:n.2917A>G
NM_181833.3:c.*647A>G	NP_861971.1:n.*647A>G