Canonical Allele Identifier: CA492927948
Gene: TELO2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1555506A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1505505A>C , CM000678.2:g.1505505A>C GRCh38
NC_000016.9:g.1555506A>C , CM000678.1:g.1555506A>C GRCh37
NC_000016.8:g.1495507A>C NCBI36
NG_050910.1:g.17162A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262319.11:c.1938A>C MANE Select ENSP00000262319.6:p.Pro646=
ENST00000262319.10:c.1938A>C ENSP00000262319.6:p.Pro646=
ENST00000497339.6:c.1228-768A>C ENSP00000456383.1:n.1228-768A>C
ENST00000563676.1:n.65A>C
ENST00000564507.5:n.533A>C
ENST00000567423.1:c.358A>C
ENST00000567427.1:n.137A>C
ENST00000569744.1:n.367A>C
NM_016111.3:c.1938A>C NP_057195.2:p.Pro646=
XM_006720993.2:c.1938A>C XP_006721056.1:p.Pro646=
XM_011522773.1:c.1938A>C XP_011521075.1:p.Pro646=
XM_011522774.1:c.1938A>C XP_011521076.1:p.Pro646=
XM_011522775.1:c.1938A>C XP_011521077.1:p.Pro646=
XM_011522776.1:c.1938A>C XP_011521078.1:p.Pro646=
XM_011522777.1:c.1938A>C XP_011521079.1:p.Pro646=
XM_011522778.1:c.1938A>C XP_011521080.1:p.Pro646=
XR_932982.1:n.2224A>C
XR_932983.1:n.2144A>C
NM_001351846.1:c.1938A>C NP_001338775.1:p.Pro646=
XM_011522773.3:c.1938A>C XP_011521075.1:p.Pro646=
XM_011522774.2:c.1938A>C XP_011521076.1:p.Pro646=
XM_011522775.3:c.1938A>C XP_011521077.1:p.Pro646=
XM_011522776.2:c.1938A>C XP_011521078.1:p.Pro646=
XM_011522777.3:c.1938A>C XP_011521079.1:p.Pro646=
XM_011522778.3:c.1938A>C XP_011521080.1:p.Pro646=
XR_001752042.2:n.2002A>C
XR_001752043.2:n.1985A>C
XR_001752044.2:n.1922A>C
XR_932982.3:n.2002A>C
NM_016111.4:c.1938A>C MANE Select NP_057195.2:p.Pro646=
NM_001351846.2:c.1938A>C NP_001338775.1:p.Pro646=