Canonical Allele Identifier: CA638997706

Gene: NF2

Linked Data

• dbSNP Id: rs1264894975
• gnomAD v2: 22-30094252-TTC-T
• gnomAD v3: 22-29698263-TTC-T
• gnomAD v4: 22-29698263-TTC-T
• MyVariant Identifiers: chr22:g.30094253_30094254del (hg19) ; chr22:g.29698264_29698265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698269_29698270del , CM000684.2:g.29698269_29698270del	GRCh38
NC_000022.10:g.30094258_30094259del , CM000684.1:g.30094258_30094259del	GRCh37
NC_000022.9:g.28424258_28424259del	NCBI36
NG_009057.1:g.99714_99715del , LRG_511:g.99714_99715del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*3467_*3468del MANE Select	ENSP00000344666.5:n.*3467_*3468del
ENST00000672896.1:c.*3527_*3528del	ENSP00000500117.1:n.*3527_*3528del
ENST00000338641.8:c.*3467_*3468del	ENSP00000344666.4:n.*3467_*3468del
ENST00000361452.8:c.*3527_*3528del	ENSP00000354897.4:n.*3527_*3528del
ENST00000413209.6:c.*3467_*3468del	ENSP00000409921.2:n.*3467_*3468del
NM_000268.3:c.*3467_*3468del , LRG_511t1:c.*3467_*3468del	NP_000259.1:n.*3467_*3468del
NM_016418.5:c.*3527_*3528del , LRG_511t2:c.*3527_*3528del	NP_057502.2:n.*3527_*3528del
NM_181828.2:c.*3527_*3528del	NP_861966.1:n.*3527_*3528del
NM_181829.2:c.*3527_*3528del	NP_861967.1:n.*3527_*3528del
NM_181830.2:c.*3527_*3528del	NP_861968.1:n.*3527_*3528del
NM_181832.2:c.*3542_*3543del	NP_861970.1:n.*3542_*3543del
NM_181833.2:c.*3467_*3468del	NP_861971.1:n.*3467_*3468del
NR_156186.1:n.5814_5815del
XM_017028810.1:c.*3527_*3528del	XP_016884299.1:n.*3527_*3528del
NM_000268.4:c.*3467_*3468del MANE Select	NP_000259.1:n.*3467_*3468del
NM_181828.3:c.*3527_*3528del	NP_861966.1:n.*3527_*3528del
NM_181829.3:c.*3527_*3528del	NP_861967.1:n.*3527_*3528del
NM_181830.3:c.*3527_*3528del	NP_861968.1:n.*3527_*3528del
NM_181832.3:c.*3542_*3543del	NP_861970.1:n.*3542_*3543del
NR_156186.2:n.5737_5738del
NM_181833.3:c.*3467_*3468del	NP_861971.1:n.*3467_*3468del