Canonical Allele Identifier: CA186356815

Gene: TG

Linked Data

• ClinVar Variation Id: 2721461
• ClinVar RCV Id: RCV003556483
• dbSNP Id: rs890862536
• gnomAD v2: 8-134145835-C-T
• gnomAD v3: 8-133133591-C-T
• gnomAD v4: 8-133133591-C-T
• COSMIC: COSM1096336
• MyVariant Identifiers: chr8:g.134145835C>T (hg19) ; chr8:g.133133591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133133591C>T , CM000670.2:g.133133591C>T	GRCh38
NC_000008.10:g.134145835C>T , CM000670.1:g.134145835C>T	GRCh37
NC_000008.9:g.134215017C>T	NCBI36
NG_015832.1:g.271631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.8119C>T MANE Select	ENSP00000220616.4:p.Arg2707Ter
ENST00000220616.8:c.8119C>T	ENSP00000220616.4:p.Arg2707Ter
ENST00000519178.5:c.3485C>T
ENST00000519543.5:c.2518C>T	ENSP00000430430.1:p.Arg840Ter
ENST00000521107.1:c.331C>T	ENSP00000430161.1:p.Arg111Ter
ENST00000522691.1:n.205C>T
ENST00000523756.5:c.4774C>T
NM_003235.4:c.8119C>T	NP_003226.4:p.Arg2707Ter
XM_005251038.3:c.7927C>T	XP_005251095.1:p.Arg2643Ter
XM_006716622.2:c.8056C>T	XP_006716685.1:p.Arg2686Ter
XM_005251038.4:c.7927C>T	XP_005251095.1:p.Arg2643Ter
XM_006716622.3:c.8056C>T	XP_006716685.1:p.Arg2686Ter
XM_017013793.1:c.8053C>T	XP_016869282.1:p.Arg2685Ter
XM_017013794.1:c.7984C>T	XP_016869283.1:p.Arg2662Ter
XM_017013795.1:c.7948C>T	XP_016869284.1:p.Arg2650Ter
XM_017013796.1:c.7900C>T	XP_016869285.1:p.Arg2634Ter
XM_017013797.1:c.7858C>T	XP_016869286.1:p.Arg2620Ter
NM_003235.5:c.8119C>T MANE Select	NP_003226.4:p.Arg2707Ter