Canonical Allele Identifier: CA411149695

Gene: NF2

Linked Data

• ClinVar Variation Id: 1710973
• ClinVar RCV Id: RCV002292260
• MyVariant Identifiers: chr22:g.30074260G>C (hg19) ; chr22:g.29678271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678271G>C , CM000684.2:g.29678271G>C	GRCh38
NC_000022.10:g.30074260G>C , CM000684.1:g.30074260G>C	GRCh37
NC_000022.9:g.28404260G>C	NCBI36
NG_009057.1:g.79716G>C , LRG_511:g.79716G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1387G>C	ENSP00000354529.6:p.Asp463His
ENST00000673312.2:c.*1016G>C	ENSP00000500186.2:n.*1016G>C
ENST00000338641.10:c.1522G>C MANE Select	ENSP00000344666.5:p.Asp508His
ENST00000361166.9:c.940G>C	ENSP00000354529.5:p.Asp314His
ENST00000672461.1:c.1522G>C	ENSP00000500919.1:p.Asp508His
ENST00000672805.1:c.*1404G>C	ENSP00000500295.1:n.*1404G>C
ENST00000672896.1:c.1522G>C	ENSP00000500117.1:p.Asp508His
ENST00000673312.1:c.1541G>C	ENSP00000500186.1:n.1541G>C
ENST00000334961.11:c.1273G>C	ENSP00000335652.7:p.Asp425His
ENST00000338641.8:c.1522G>C	ENSP00000344666.4:p.Asp508His
ENST00000353887.8:c.1273G>C	ENSP00000340626.4:p.Asp425His
ENST00000361166.8:c.1522G>C	ENSP00000354529.4:p.Asp508His
ENST00000361452.8:c.1399G>C	ENSP00000354897.4:p.Asp467His
ENST00000361676.8:c.1396G>C	ENSP00000355183.4:p.Asp466His
ENST00000397789.3:c.1522G>C	ENSP00000380891.3:p.Asp508His
ENST00000403435.5:c.1435G>C	ENSP00000384029.1:p.Asp479His
ENST00000403999.7:c.1522G>C	ENSP00000384797.3:p.Asp508His
ENST00000413209.6:c.448-16481G>C	ENSP00000409921.2:n.448-16481G>C
ENST00000432151.5:c.*41G>C	ENSP00000395885.1:n.*41G>C
NM_000268.3:c.1522G>C , LRG_511t1:c.1522G>C	NP_000259.1:p.Asp508His
NM_016418.5:c.1522G>C , LRG_511t2:c.1522G>C	NP_057502.2:p.Asp508His
NM_181825.2:c.1522G>C	NP_861546.1:p.Asp508His
NM_181828.2:c.1396G>C	NP_861966.1:p.Asp466His
NM_181829.2:c.1399G>C	NP_861967.1:p.Asp467His
NM_181830.2:c.1273G>C	NP_861968.1:p.Asp425His
NM_181831.2:c.1273G>C	NP_861969.1:p.Asp425His
NM_181832.2:c.1522G>C	NP_861970.1:p.Asp508His
NM_181833.2:c.448-16481G>C	NP_861971.1:n.448-16481G>C
NR_156186.1:n.2081G>C
XM_017028809.2:c.1408G>C	XP_016884298.1:p.Asp470His
XM_017028810.1:c.1408G>C	XP_016884299.1:p.Asp470His
NM_000268.4:c.1522G>C MANE Select	NP_000259.1:p.Asp508His
NM_181825.3:c.1522G>C	NP_861546.1:p.Asp508His
NM_181828.3:c.1396G>C	NP_861966.1:p.Asp466His
NM_181829.3:c.1399G>C	NP_861967.1:p.Asp467His
NM_181830.3:c.1273G>C	NP_861968.1:p.Asp425His
NM_181831.3:c.1273G>C	NP_861969.1:p.Asp425His
NM_181832.3:c.1522G>C	NP_861970.1:p.Asp508His
NR_156186.2:n.2004G>C
NM_181833.3:c.448-16481G>C	NP_861971.1:n.448-16481G>C