Canonical Allele Identifier: CA16040592

Gene: NF2

Linked Data

• MyVariant Identifiers: chr22:g.30069256A>T (hg19) ; chr22:g.29673267A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673267A>T , CM000684.2:g.29673267A>T	GRCh38
NC_000022.10:g.30069256A>T , CM000684.1:g.30069256A>T	GRCh37
NC_000022.9:g.28399256A>T	NCBI36
NG_009057.1:g.74712A>T , LRG_511:g.74712A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.988-2A>T	ENSP00000354529.6:n.988-2A>T
ENST00000673312.2:c.*617-2A>T	ENSP00000500186.2:n.*617-2A>T
ENST00000338641.10:c.1123-2A>T MANE Select	ENSP00000344666.5:n.1123-2A>T
ENST00000361166.9:c.541-2A>T	ENSP00000354529.5:n.541-2A>T
ENST00000672461.1:c.1123-2A>T	ENSP00000500919.1:n.1123-2A>T
ENST00000672805.1:c.*1005-2A>T	ENSP00000500295.1:n.*1005-2A>T
ENST00000672896.1:c.1123-2A>T	ENSP00000500117.1:n.1123-2A>T
ENST00000673312.1:c.1142-2A>T	ENSP00000500186.1:n.1142-2A>T
ENST00000334961.11:c.874-2A>T	ENSP00000335652.7:n.874-2A>T
ENST00000338641.8:c.1123-2A>T	ENSP00000344666.4:n.1123-2A>T
ENST00000353887.8:c.874-2A>T	ENSP00000340626.4:n.874-2A>T
ENST00000361166.8:c.1123-2A>T	ENSP00000354529.4:n.1123-2A>T
ENST00000361452.8:c.1000-2A>T	ENSP00000354897.4:n.1000-2A>T
ENST00000361676.8:c.997-2A>T	ENSP00000355183.4:n.997-2A>T
ENST00000397789.3:c.1123-2A>T	ENSP00000380891.3:n.1123-2A>T
ENST00000403435.5:c.1036-2A>T	ENSP00000384029.1:n.1036-2A>T
ENST00000403999.7:c.1123-2A>T	ENSP00000384797.3:n.1123-2A>T
ENST00000413209.6:c.448-21485A>T	ENSP00000409921.2:n.448-21485A>T
ENST00000432151.5:c.523-1569A>T	ENSP00000395885.1:n.523-1569A>T
NM_000268.3:c.1123-2A>T , LRG_511t1:c.1123-2A>T	NP_000259.1:n.1123-2A>T
NM_016418.5:c.1123-2A>T , LRG_511t2:c.1123-2A>T	NP_057502.2:n.1123-2A>T
NM_181825.2:c.1123-2A>T	NP_861546.1:n.1123-2A>T
NM_181828.2:c.997-2A>T	NP_861966.1:n.997-2A>T
NM_181829.2:c.1000-2A>T	NP_861967.1:n.1000-2A>T
NM_181830.2:c.874-2A>T	NP_861968.1:n.874-2A>T
NM_181831.2:c.874-2A>T	NP_861969.1:n.874-2A>T
NM_181832.2:c.1123-2A>T	NP_861970.1:n.1123-2A>T
NM_181833.2:c.448-21485A>T	NP_861971.1:n.448-21485A>T
NR_156186.1:n.1682-2A>T
XM_017028809.2:c.1009-2A>T	XP_016884298.1:n.1009-2A>T
XM_017028810.1:c.1009-2A>T	XP_016884299.1:n.1009-2A>T
NM_000268.4:c.1123-2A>T MANE Select	NP_000259.1:n.1123-2A>T
NM_181825.3:c.1123-2A>T	NP_861546.1:n.1123-2A>T
NM_181828.3:c.997-2A>T	NP_861966.1:n.997-2A>T
NM_181829.3:c.1000-2A>T	NP_861967.1:n.1000-2A>T
NM_181830.3:c.874-2A>T	NP_861968.1:n.874-2A>T
NM_181831.3:c.874-2A>T	NP_861969.1:n.874-2A>T
NM_181832.3:c.1123-2A>T	NP_861970.1:n.1123-2A>T
NR_156186.2:n.1605-2A>T
NM_181833.3:c.448-21485A>T	NP_861971.1:n.448-21485A>T