Canonical Allele Identifier: CA323128353

Gene: NF2

Linked Data

• dbSNP Id: rs983057702
• gnomAD v2: 22-30091445-AT-A
• gnomAD v3: 22-29695456-AT-A
• gnomAD v4: 22-29695456-AT-A
• MyVariant Identifiers: chr22:g.30091446del (hg19) ; chr22:g.29695457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695457del , CM000684.2:g.29695457del	GRCh38
NC_000022.10:g.30091446del , CM000684.1:g.30091446del	GRCh37
NC_000022.9:g.28421446del	NCBI36
NG_009057.1:g.96902del , LRG_511:g.96902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*655del MANE Select	ENSP00000344666.5:n.*655del
ENST00000672461.1:c.*501+214del	ENSP00000500919.1:n.*501+214del
ENST00000672896.1:c.*715del	ENSP00000500117.1:n.*715del
ENST00000338641.8:c.*655del	ENSP00000344666.4:n.*655del
ENST00000361452.8:c.*715del	ENSP00000354897.4:n.*715del
ENST00000413209.6:c.*655del	ENSP00000409921.2:n.*655del
NM_000268.3:c.*655del , LRG_511t1:c.*655del	NP_000259.1:n.*655del
NM_016418.5:c.*715del , LRG_511t2:c.*715del	NP_057502.2:n.*715del
NM_181828.2:c.*715del	NP_861966.1:n.*715del
NM_181829.2:c.*715del	NP_861967.1:n.*715del
NM_181830.2:c.*715del	NP_861968.1:n.*715del
NM_181832.2:c.*730del	NP_861970.1:n.*730del
NM_181833.2:c.*655del	NP_861971.1:n.*655del
NR_156186.1:n.3002del
XM_017028810.1:c.*715del	XP_016884299.1:n.*715del
NM_000268.4:c.*655del MANE Select	NP_000259.1:n.*655del
NM_181828.3:c.*715del	NP_861966.1:n.*715del
NM_181829.3:c.*715del	NP_861967.1:n.*715del
NM_181830.3:c.*715del	NP_861968.1:n.*715del
NM_181832.3:c.*730del	NP_861970.1:n.*730del
NR_156186.2:n.2925del
NM_181833.3:c.*655del	NP_861971.1:n.*655del