Canonical Allele Identifier: CA323129949

Gene: NF2

Linked Data

• dbSNP Id: rs995054892
• MyVariant Identifiers: chr22:g.30093509del (hg19) ; chr22:g.29697520del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697520del , CM000684.2:g.29697520del	GRCh38
NC_000022.10:g.30093509del , CM000684.1:g.30093509del	GRCh37
NC_000022.9:g.28423509del	NCBI36
NG_009057.1:g.98965del , LRG_511:g.98965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2718del MANE Select	ENSP00000344666.5:n.*2718del
ENST00000672461.1:c.*761del	ENSP00000500919.1:n.*761del
ENST00000672896.1:c.*2778del	ENSP00000500117.1:n.*2778del
ENST00000338641.8:c.*2718del	ENSP00000344666.4:n.*2718del
ENST00000361452.8:c.*2778del	ENSP00000354897.4:n.*2778del
ENST00000413209.6:c.*2718del	ENSP00000409921.2:n.*2718del
NM_000268.3:c.*2718del , LRG_511t1:c.*2718del	NP_000259.1:n.*2718del
NM_016418.5:c.*2778del , LRG_511t2:c.*2778del	NP_057502.2:n.*2778del
NM_181828.2:c.*2778del	NP_861966.1:n.*2778del
NM_181829.2:c.*2778del	NP_861967.1:n.*2778del
NM_181830.2:c.*2778del	NP_861968.1:n.*2778del
NM_181832.2:c.*2793del	NP_861970.1:n.*2793del
NM_181833.2:c.*2718del	NP_861971.1:n.*2718del
NR_156186.1:n.5065del
XM_017028810.1:c.*2778del	XP_016884299.1:n.*2778del
NM_000268.4:c.*2718del MANE Select	NP_000259.1:n.*2718del
NM_181828.3:c.*2778del	NP_861966.1:n.*2778del
NM_181829.3:c.*2778del	NP_861967.1:n.*2778del
NM_181830.3:c.*2778del	NP_861968.1:n.*2778del
NM_181832.3:c.*2793del	NP_861970.1:n.*2793del
NR_156186.2:n.4988del
NM_181833.3:c.*2718del	NP_861971.1:n.*2718del