Canonical Allele Identifier: CA394217423

Gene: TELO2

Linked Data

• gnomAD v4: 16-1505504-C-T
• MyVariant Identifiers: chr16:g.1555505C>T (hg19) ; chr16:g.1505504C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1505504C>T , CM000678.2:g.1505504C>T	GRCh38
NC_000016.9:g.1555505C>T , CM000678.1:g.1555505C>T	GRCh37
NC_000016.8:g.1495506C>T	NCBI36
NG_050910.1:g.17161C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262319.11:c.1937C>T MANE Select	ENSP00000262319.6:p.Pro646Leu
ENST00000262319.10:c.1937C>T	ENSP00000262319.6:p.Pro646Leu
ENST00000497339.6:c.1228-769C>T	ENSP00000456383.1:n.1228-769C>T
ENST00000563676.1:n.64C>T
ENST00000564507.5:n.532C>T
ENST00000567423.1:c.357C>T
ENST00000567427.1:n.136C>T
ENST00000569744.1:n.366C>T
NM_016111.3:c.1937C>T	NP_057195.2:p.Pro646Leu
XM_006720993.2:c.1937C>T	XP_006721056.1:p.Pro646Leu
XM_011522773.1:c.1937C>T	XP_011521075.1:p.Pro646Leu
XM_011522774.1:c.1937C>T	XP_011521076.1:p.Pro646Leu
XM_011522775.1:c.1937C>T	XP_011521077.1:p.Pro646Leu
XM_011522776.1:c.1937C>T	XP_011521078.1:p.Pro646Leu
XM_011522777.1:c.1937C>T	XP_011521079.1:p.Pro646Leu
XM_011522778.1:c.1937C>T	XP_011521080.1:p.Pro646Leu
XR_932982.1:n.2223C>T
XR_932983.1:n.2143C>T
NM_001351846.1:c.1937C>T	NP_001338775.1:p.Pro646Leu
XM_011522773.3:c.1937C>T	XP_011521075.1:p.Pro646Leu
XM_011522774.2:c.1937C>T	XP_011521076.1:p.Pro646Leu
XM_011522775.3:c.1937C>T	XP_011521077.1:p.Pro646Leu
XM_011522776.2:c.1937C>T	XP_011521078.1:p.Pro646Leu
XM_011522777.3:c.1937C>T	XP_011521079.1:p.Pro646Leu
XM_011522778.3:c.1937C>T	XP_011521080.1:p.Pro646Leu
XR_001752042.2:n.2001C>T
XR_001752043.2:n.1984C>T
XR_001752044.2:n.1921C>T
XR_932982.3:n.2001C>T
NM_016111.4:c.1937C>T MANE Select	NP_057195.2:p.Pro646Leu
NM_001351846.2:c.1937C>T	NP_001338775.1:p.Pro646Leu