Canonical Allele Identifier: CA638997281

Gene: NF2

Linked Data

• dbSNP Id: rs1371051651
• gnomAD v2: 22-30091472-TG-T
• gnomAD v3: 22-29695483-TG-T
• gnomAD v4: 22-29695483-TG-T
• MyVariant Identifiers: chr22:g.30091473del (hg19) ; chr22:g.29695484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695486del , CM000684.2:g.29695486del	GRCh38
NC_000022.10:g.30091475del , CM000684.1:g.30091475del	GRCh37
NC_000022.9:g.28421475del	NCBI36
NG_009057.1:g.96931del , LRG_511:g.96931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*684del MANE Select	ENSP00000344666.5:n.*684del
ENST00000672461.1:c.*501+243del	ENSP00000500919.1:n.*501+243del
ENST00000672896.1:c.*744del	ENSP00000500117.1:n.*744del
ENST00000338641.8:c.*684del	ENSP00000344666.4:n.*684del
ENST00000361452.8:c.*744del	ENSP00000354897.4:n.*744del
ENST00000413209.6:c.*684del	ENSP00000409921.2:n.*684del
NM_000268.3:c.*684del , LRG_511t1:c.*684del	NP_000259.1:n.*684del
NM_016418.5:c.*744del , LRG_511t2:c.*744del	NP_057502.2:n.*744del
NM_181828.2:c.*744del	NP_861966.1:n.*744del
NM_181829.2:c.*744del	NP_861967.1:n.*744del
NM_181830.2:c.*744del	NP_861968.1:n.*744del
NM_181832.2:c.*759del	NP_861970.1:n.*759del
NM_181833.2:c.*684del	NP_861971.1:n.*684del
NR_156186.1:n.3031del
XM_017028810.1:c.*744del	XP_016884299.1:n.*744del
NM_000268.4:c.*684del MANE Select	NP_000259.1:n.*684del
NM_181828.3:c.*744del	NP_861966.1:n.*744del
NM_181829.3:c.*744del	NP_861967.1:n.*744del
NM_181830.3:c.*744del	NP_861968.1:n.*744del
NM_181832.3:c.*759del	NP_861970.1:n.*759del
NR_156186.2:n.2954del
NM_181833.3:c.*684del	NP_861971.1:n.*684del