Canonical Allele Identifier: CA492927871

Gene: TELO2

Linked Data

• dbSNP Id: rs2141062267
• gnomAD v4: 16-1505424-T-C
• MyVariant Identifiers: chr16:g.1555425T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1505424T>C , CM000678.2:g.1505424T>C	GRCh38
NC_000016.9:g.1555425T>C , CM000678.1:g.1555425T>C	GRCh37
NC_000016.8:g.1495426T>C	NCBI36
NG_050910.1:g.17081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.1857T>C MANE Select	ENSP00000262319.6:p.Ala619=
ENST00000262319.10:c.1857T>C	ENSP00000262319.6:p.Ala619=
ENST00000497339.6:c.1228-849T>C	ENSP00000456383.1:n.1228-849T>C
ENST00000564507.5:n.452T>C
ENST00000567423.1:c.277T>C
ENST00000567427.1:n.56T>C
ENST00000569744.1:n.286T>C
NM_016111.3:c.1857T>C	NP_057195.2:p.Ala619=
XM_006720993.2:c.1857T>C	XP_006721056.1:p.Ala619=
XM_011522773.1:c.1857T>C	XP_011521075.1:p.Ala619=
XM_011522774.1:c.1857T>C	XP_011521076.1:p.Ala619=
XM_011522775.1:c.1857T>C	XP_011521077.1:p.Ala619=
XM_011522776.1:c.1857T>C	XP_011521078.1:p.Ala619=
XM_011522777.1:c.1857T>C	XP_011521079.1:p.Ala619=
XM_011522778.1:c.1857T>C	XP_011521080.1:p.Ala619=
XR_932982.1:n.2143T>C
XR_932983.1:n.2063T>C
NM_001351846.1:c.1857T>C	NP_001338775.1:p.Ala619=
XM_011522773.3:c.1857T>C	XP_011521075.1:p.Ala619=
XM_011522774.2:c.1857T>C	XP_011521076.1:p.Ala619=
XM_011522775.3:c.1857T>C	XP_011521077.1:p.Ala619=
XM_011522776.2:c.1857T>C	XP_011521078.1:p.Ala619=
XM_011522777.3:c.1857T>C	XP_011521079.1:p.Ala619=
XM_011522778.3:c.1857T>C	XP_011521080.1:p.Ala619=
XR_001752042.2:n.1921T>C
XR_001752043.2:n.1904T>C
XR_001752044.2:n.1841T>C
XR_932982.3:n.1921T>C
NM_016111.4:c.1857T>C MANE Select	NP_057195.2:p.Ala619=
NM_001351846.2:c.1857T>C	NP_001338775.1:p.Ala619=