Canonical Allele Identifier: CA752252785

Gene: NF2

Linked Data

• dbSNP Id: rs1186532205
• gnomAD v2: 22-30094263-CCT-C
• gnomAD v3: 22-29698274-CCT-C
• gnomAD v4: 22-29698274-CCT-C
• MyVariant Identifiers: chr22:g.30094264_30094265del (hg19) ; chr22:g.29698275_29698276del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698279_29698280del , CM000684.2:g.29698279_29698280del	GRCh38
NC_000022.10:g.30094268_30094269del , CM000684.1:g.30094268_30094269del	GRCh37
NC_000022.9:g.28424268_28424269del	NCBI36
NG_009057.1:g.99724_99725del , LRG_511:g.99724_99725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*3477_*3478del MANE Select	ENSP00000344666.5:n.*3477_*3478del
ENST00000672896.1:c.*3537_*3538del	ENSP00000500117.1:n.*3537_*3538del
ENST00000338641.8:c.*3477_*3478del	ENSP00000344666.4:n.*3477_*3478del
ENST00000361452.8:c.*3537_*3538del	ENSP00000354897.4:n.*3537_*3538del
ENST00000413209.6:c.*3477_*3478del	ENSP00000409921.2:n.*3477_*3478del
NM_000268.3:c.*3477_*3478del , LRG_511t1:c.*3477_*3478del	NP_000259.1:n.*3477_*3478del
NM_016418.5:c.*3537_*3538del , LRG_511t2:c.*3537_*3538del	NP_057502.2:n.*3537_*3538del
NM_181828.2:c.*3537_*3538del	NP_861966.1:n.*3537_*3538del
NM_181829.2:c.*3537_*3538del	NP_861967.1:n.*3537_*3538del
NM_181830.2:c.*3537_*3538del	NP_861968.1:n.*3537_*3538del
NM_181832.2:c.*3552_*3553del	NP_861970.1:n.*3552_*3553del
NM_181833.2:c.*3477_*3478del	NP_861971.1:n.*3477_*3478del
NR_156186.1:n.5824_5825del
XM_017028810.1:c.*3537_*3538del	XP_016884299.1:n.*3537_*3538del
NM_000268.4:c.*3477_*3478del MANE Select	NP_000259.1:n.*3477_*3478del
NM_181828.3:c.*3537_*3538del	NP_861966.1:n.*3537_*3538del
NM_181829.3:c.*3537_*3538del	NP_861967.1:n.*3537_*3538del
NM_181830.3:c.*3537_*3538del	NP_861968.1:n.*3537_*3538del
NM_181832.3:c.*3552_*3553del	NP_861970.1:n.*3552_*3553del
NR_156186.2:n.5747_5748del
NM_181833.3:c.*3477_*3478del	NP_861971.1:n.*3477_*3478del