Canonical Allele Identifier: CA372233747

Gene: TG

Linked Data

• ClinVar Variation Id: 2779674
• ClinVar RCV Id: RCV003665256
• MyVariant Identifiers: chr8:g.134030190C>T (hg19) ; chr8:g.133017945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133017945C>T , CM000670.2:g.133017945C>T	GRCh38
NC_000008.10:g.134030190C>T , CM000670.1:g.134030190C>T	GRCh37
NC_000008.9:g.134099372C>T	NCBI36
NG_015832.1:g.155986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.6730C>T MANE Select	ENSP00000220616.4:p.Gln2244Ter
ENST00000220616.8:c.6730C>T	ENSP00000220616.4:p.Gln2244Ter
ENST00000518108.1:c.168+79C>T
ENST00000519178.5:c.2096C>T
ENST00000519543.5:c.1129C>T	ENSP00000430430.1:p.Gln377Ter
ENST00000522523.5:n.791C>T
ENST00000523756.5:c.3385C>T
NM_003235.4:c.6730C>T	NP_003226.4:p.Gln2244Ter
XM_005251038.3:c.6538C>T	XP_005251095.1:p.Gln2180Ter
XM_006716622.2:c.6667C>T	XP_006716685.1:p.Gln2223Ter
XM_005251038.4:c.6538C>T	XP_005251095.1:p.Gln2180Ter
XM_006716622.3:c.6667C>T	XP_006716685.1:p.Gln2223Ter
XM_017013793.1:c.6664C>T	XP_016869282.1:p.Gln2222Ter
XM_017013794.1:c.6730C>T	XP_016869283.1:p.Gln2244Ter
XM_017013795.1:c.6559C>T	XP_016869284.1:p.Gln2187Ter
XM_017013796.1:c.6511C>T	XP_016869285.1:p.Gln2171Ter
XM_017013797.1:c.6469C>T	XP_016869286.1:p.Gln2157Ter
XM_017013798.1:c.6730C>T	XP_016869287.1:p.Gln2244Ter
NM_003235.5:c.6730C>T MANE Select	NP_003226.4:p.Gln2244Ter