Canonical Allele Identifier: CA394217457

Gene: TELO2

Linked Data

• MyVariant Identifiers: chr16:g.1555511C>T (hg19) ; chr16:g.1505510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1505510C>T , CM000678.2:g.1505510C>T	GRCh38
NC_000016.9:g.1555511C>T , CM000678.1:g.1555511C>T	GRCh37
NC_000016.8:g.1495512C>T	NCBI36
NG_050910.1:g.17167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.1943C>T MANE Select	ENSP00000262319.6:p.Ala648Val
ENST00000262319.10:c.1943C>T	ENSP00000262319.6:p.Ala648Val
ENST00000497339.6:c.1228-763C>T	ENSP00000456383.1:n.1228-763C>T
ENST00000563676.1:n.70C>T
ENST00000564507.5:n.538C>T
ENST00000567423.1:c.363C>T
ENST00000567427.1:n.142C>T
ENST00000569744.1:n.372C>T
NM_016111.3:c.1943C>T	NP_057195.2:p.Ala648Val
XM_006720993.2:c.1943C>T	XP_006721056.1:p.Ala648Val
XM_011522773.1:c.1943C>T	XP_011521075.1:p.Ala648Val
XM_011522774.1:c.1943C>T	XP_011521076.1:p.Ala648Val
XM_011522775.1:c.1943C>T	XP_011521077.1:p.Ala648Val
XM_011522776.1:c.1943C>T	XP_011521078.1:p.Ala648Val
XM_011522777.1:c.1943C>T	XP_011521079.1:p.Ala648Val
XM_011522778.1:c.1943C>T	XP_011521080.1:p.Ala648Val
XR_932982.1:n.2229C>T
XR_932983.1:n.2149C>T
NM_001351846.1:c.1943C>T	NP_001338775.1:p.Ala648Val
XM_011522773.3:c.1943C>T	XP_011521075.1:p.Ala648Val
XM_011522774.2:c.1943C>T	XP_011521076.1:p.Ala648Val
XM_011522775.3:c.1943C>T	XP_011521077.1:p.Ala648Val
XM_011522776.2:c.1943C>T	XP_011521078.1:p.Ala648Val
XM_011522777.3:c.1943C>T	XP_011521079.1:p.Ala648Val
XM_011522778.3:c.1943C>T	XP_011521080.1:p.Ala648Val
XR_001752042.2:n.2007C>T
XR_001752043.2:n.1990C>T
XR_001752044.2:n.1927C>T
XR_932982.3:n.2007C>T
NM_016111.4:c.1943C>T MANE Select	NP_057195.2:p.Ala648Val
NM_001351846.2:c.1943C>T	NP_001338775.1:p.Ala648Val