Canonical Allele Identifier: CA599502978

Gene: TMEM216

Linked Data

• dbSNP Id: rs1224291912
• gnomAD v2: 11-61160082-C-G
• gnomAD v4: 11-61392610-C-G
• MyVariant Identifiers: chr11:g.61160082C>G (hg19) ; chr11:g.61160082_61160112delinsGCGGGAGCCGCTGTGGCAGCGTATGCTGCCA (hg19) ; chr11:g.61392610C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392610C>G , CM000673.2:g.61392610C>G	GRCh38
NC_000011.9:g.61160082C>G , CM000673.1:g.61160082C>G	GRCh37
NC_000011.8:g.60916658C>G	NCBI36
NG_032976.1:g.5251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.-22C>G	ENSP00000334844.5:n.-22C>G
ENST00000544795.6:n.24C>G
ENST00000690736.1:c.-22C>G	ENSP00000508542.1:n.-22C>G
ENST00000515837.7:c.-22C>G MANE Select	ENSP00000440638.1:n.-22C>G
ENST00000334888.9:c.-22C>G	ENSP00000334844.5:n.-22C>G
ENST00000398979.7:c.-219C>G	ENSP00000381950.3:n.-219C>G
ENST00000515837.6:c.-22C>G	ENSP00000440638.1:n.-22C>G
NM_001173990.2:c.-22C>G	NP_001167461.1:n.-22C>G
NM_001173991.2:c.-22C>G	NP_001167462.1:n.-22C>G
NM_016499.5:c.-219C>G	NP_057583.2:n.-219C>G
XM_005274039.3:c.-353C>G	XP_005274096.1:n.-353C>G
NM_001330285.1:c.-219C>G	NP_001317214.1:n.-219C>G
XM_005274039.4:c.-353C>G	XP_005274096.1:n.-353C>G
NM_001173990.3:c.-22C>G MANE Select	NP_001167461.1:n.-22C>G
NM_001173991.3:c.-22C>G	NP_001167462.1:n.-22C>G
NM_001330285.2:c.-219C>G	NP_001317214.1:n.-219C>G
NM_016499.6:c.-219C>G	NP_057583.2:n.-219C>G