Canonical Allele Identifier: CA394217476

Gene: TELO2

Linked Data

• MyVariant Identifiers: chr16:g.1555514C>A (hg19) ; chr16:g.1505513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1505513C>A , CM000678.2:g.1505513C>A	GRCh38
NC_000016.9:g.1555514C>A , CM000678.1:g.1555514C>A	GRCh37
NC_000016.8:g.1495515C>A	NCBI36
NG_050910.1:g.17170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.1946C>A MANE Select	ENSP00000262319.6:p.Ala649Asp
ENST00000262319.10:c.1946C>A	ENSP00000262319.6:p.Ala649Asp
ENST00000497339.6:c.1228-760C>A	ENSP00000456383.1:n.1228-760C>A
ENST00000563676.1:n.73C>A
ENST00000564507.5:n.541C>A
ENST00000567423.1:c.366C>A
ENST00000567427.1:n.145C>A
ENST00000569744.1:n.375C>A
NM_016111.3:c.1946C>A	NP_057195.2:p.Ala649Asp
XM_006720993.2:c.1946C>A	XP_006721056.1:p.Ala649Asp
XM_011522773.1:c.1946C>A	XP_011521075.1:p.Ala649Asp
XM_011522774.1:c.1946C>A	XP_011521076.1:p.Ala649Asp
XM_011522775.1:c.1946C>A	XP_011521077.1:p.Ala649Asp
XM_011522776.1:c.1946C>A	XP_011521078.1:p.Ala649Asp
XM_011522777.1:c.1946C>A	XP_011521079.1:p.Ala649Asp
XM_011522778.1:c.1946C>A	XP_011521080.1:p.Ala649Asp
XR_932982.1:n.2232C>A
XR_932983.1:n.2152C>A
NM_001351846.1:c.1946C>A	NP_001338775.1:p.Ala649Asp
XM_011522773.3:c.1946C>A	XP_011521075.1:p.Ala649Asp
XM_011522774.2:c.1946C>A	XP_011521076.1:p.Ala649Asp
XM_011522775.3:c.1946C>A	XP_011521077.1:p.Ala649Asp
XM_011522776.2:c.1946C>A	XP_011521078.1:p.Ala649Asp
XM_011522777.3:c.1946C>A	XP_011521079.1:p.Ala649Asp
XM_011522778.3:c.1946C>A	XP_011521080.1:p.Ala649Asp
XR_001752042.2:n.2010C>A
XR_001752043.2:n.1993C>A
XR_001752044.2:n.1930C>A
XR_932982.3:n.2010C>A
NM_016111.4:c.1946C>A MANE Select	NP_057195.2:p.Ala649Asp
NM_001351846.2:c.1946C>A	NP_001338775.1:p.Ala649Asp