Canonical Allele Identifier: CA2613836527

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 2756578
• ClinVar RCV Id: RCV003495864
• gnomAD v4: 11-61392677-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392677G>A , CM000673.2:g.61392677G>A	GRCh38
NC_000011.9:g.61160149G>A , CM000673.1:g.61160149G>A	GRCh37
NC_000011.8:g.60916725G>A	NCBI36
NG_032976.1:g.5318G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334888.10:c.34+12G>A	ENSP00000334844.5:n.34+12G>A
ENST00000544795.6:n.91G>A
ENST00000684926.1:n.48G>A
ENST00000688959.1:c.-228G>A	ENSP00000509213.1:n.-228G>A
ENST00000690736.1:c.34+12G>A	ENSP00000508542.1:n.34+12G>A
ENST00000515837.7:c.34+12G>A MANE Select	ENSP00000440638.1:n.34+12G>A
ENST00000334888.9:c.34+12G>A	ENSP00000334844.5:n.34+12G>A
ENST00000398979.7:c.-152G>A	ENSP00000381950.3:n.-152G>A
ENST00000515837.6:c.34+12G>A	ENSP00000440638.1:n.34+12G>A
ENST00000541473.1:n.46G>A
ENST00000544795.5:n.48G>A
NM_001173990.2:c.34+12G>A	NP_001167461.1:n.34+12G>A
NM_001173991.2:c.34+12G>A	NP_001167462.1:n.34+12G>A
NM_016499.5:c.-152G>A	NP_057583.2:n.-152G>A
XM_005274039.3:c.-286G>A	XP_005274096.1:n.-286G>A
NM_001330285.1:c.-152G>A	NP_001317214.1:n.-152G>A
XM_005274039.4:c.-286G>A	XP_005274096.1:n.-286G>A
NM_001173990.3:c.34+12G>A MANE Select	NP_001167461.1:n.34+12G>A
NM_001173991.3:c.34+12G>A	NP_001167462.1:n.34+12G>A
NM_001330285.2:c.-152G>A	NP_001317214.1:n.-152G>A
NM_016499.6:c.-152G>A	NP_057583.2:n.-152G>A