Canonical Allele Identifier: CA16041469

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 371740
• ClinVar RCV Id: RCV000409881 ; RCV000411402 ; RCV001053497 ; RCV002502435
• dbSNP Id: rs1057517498
• gnomAD v2: 11-61160139-T-C
• gnomAD v4: 11-61392667-T-C
• MyVariant Identifiers: chr11:g.61160139T>C (hg19) ; chr11:g.61392667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392667T>C , CM000673.2:g.61392667T>C	GRCh38
NC_000011.9:g.61160139T>C , CM000673.1:g.61160139T>C	GRCh37
NC_000011.8:g.60916715T>C	NCBI36
NG_032976.1:g.5308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.34+2T>C	ENSP00000334844.5:n.34+2T>C
ENST00000544795.6:n.81T>C
ENST00000684926.1:n.38T>C
ENST00000688959.1:c.-238T>C	ENSP00000509213.1:n.-238T>C
ENST00000690736.1:c.34+2T>C	ENSP00000508542.1:n.34+2T>C
ENST00000515837.7:c.34+2T>C MANE Select	ENSP00000440638.1:n.34+2T>C
ENST00000334888.9:c.34+2T>C	ENSP00000334844.5:n.34+2T>C
ENST00000398979.7:c.-162T>C	ENSP00000381950.3:n.-162T>C
ENST00000515837.6:c.34+2T>C	ENSP00000440638.1:n.34+2T>C
ENST00000541473.1:n.36T>C
ENST00000544795.5:n.38T>C
NM_001173990.2:c.34+2T>C	NP_001167461.1:n.34+2T>C
NM_001173991.2:c.34+2T>C	NP_001167462.1:n.34+2T>C
NM_016499.5:c.-162T>C	NP_057583.2:n.-162T>C
XM_005274039.3:c.-296T>C	XP_005274096.1:n.-296T>C
NM_001330285.1:c.-162T>C	NP_001317214.1:n.-162T>C
XM_005274039.4:c.-296T>C	XP_005274096.1:n.-296T>C
NM_001173990.3:c.34+2T>C MANE Select	NP_001167461.1:n.34+2T>C
NM_001173991.3:c.34+2T>C	NP_001167462.1:n.34+2T>C
NM_001330285.2:c.-162T>C	NP_001317214.1:n.-162T>C
NM_016499.6:c.-162T>C	NP_057583.2:n.-162T>C