Canonical Allele Identifier: CA200392

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 193188
• ClinVar RCV Id: RCV000173234 ; RCV000294727 ; RCV000386157 ; RCV001094052 ; RCV001706117
• dbSNP Id: rs7107543
• ExAC: 11:61160102 G / T
• gnomAD v2: 11-61160102-G-T
• gnomAD v3: 11-61392630-G-T
• gnomAD v4: 11-61392630-G-T
• MyVariant Identifiers: chr11:g.61160102G>T (hg19) ; chr11:g.61392630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392630G>T , CM000673.2:g.61392630G>T	GRCh38
NC_000011.9:g.61160102G>T , CM000673.1:g.61160102G>T	GRCh37
NC_000011.8:g.60916678G>T	NCBI36
NG_032976.1:g.5271G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.-2G>T	ENSP00000334844.5:n.-2G>T
ENST00000544795.6:n.44G>T
ENST00000684926.1:n.1G>T
ENST00000688959.1:c.-275G>T	ENSP00000509213.1:n.-275G>T
ENST00000690736.1:c.-2G>T	ENSP00000508542.1:n.-2G>T
ENST00000515837.7:c.-2G>T MANE Select	ENSP00000440638.1:n.-2G>T
ENST00000334888.9:c.-2G>T	ENSP00000334844.5:n.-2G>T
ENST00000398979.7:c.-199G>T	ENSP00000381950.3:n.-199G>T
ENST00000515837.6:c.-2G>T	ENSP00000440638.1:n.-2G>T
ENST00000544795.5:n.1G>T
NM_001173990.2:c.-2G>T	NP_001167461.1:n.-2G>T
NM_001173991.2:c.-2G>T	NP_001167462.1:n.-2G>T
NM_016499.5:c.-199G>T	NP_057583.2:n.-199G>T
XM_005274039.3:c.-333G>T	XP_005274096.1:n.-333G>T
NM_001330285.1:c.-199G>T	NP_001317214.1:n.-199G>T
XM_005274039.4:c.-333G>T	XP_005274096.1:n.-333G>T
NM_001173990.3:c.-2G>T MANE Select	NP_001167461.1:n.-2G>T
NM_001173991.3:c.-2G>T	NP_001167462.1:n.-2G>T
NM_001330285.2:c.-199G>T	NP_001317214.1:n.-199G>T
NM_016499.6:c.-199G>T	NP_057583.2:n.-199G>T