Canonical Allele Identifier: CA276667752

Gene: TELO2

Linked Data

• dbSNP Id: rs887811016
• gnomAD v2: 16-1560244-C-T
• gnomAD v3: 16-1510243-C-T
• gnomAD v4: 16-1510243-C-T
• MyVariant Identifiers: chr16:g.1560244C>T (hg19) ; chr16:g.1510243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510243C>T , CM000678.2:g.1510243C>T	GRCh38
NC_000016.9:g.1560244C>T , CM000678.1:g.1560244C>T	GRCh37
NC_000016.8:g.1500245C>T	NCBI36
NG_032783.1:g.106866G>A
NG_050910.1:g.21900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.*307C>T MANE Select	ENSP00000262319.6:n.*307C>T
ENST00000262319.10:c.*307C>T	ENSP00000262319.6:n.*307C>T
ENST00000568240.1:n.1113C>T
NM_016111.3:c.*307C>T	NP_057195.2:n.*307C>T
XM_011522773.1:c.*307C>T	XP_011521075.1:n.*307C>T
XM_011522774.1:c.*307C>T	XP_011521076.1:n.*307C>T
XM_011522775.1:c.*307C>T	XP_011521077.1:n.*307C>T
XM_011522776.1:c.*307C>T	XP_011521078.1:n.*307C>T
XR_932982.1:n.3120C>T
NM_001351846.1:c.*307C>T	NP_001338775.1:n.*307C>T
XM_011522773.3:c.*307C>T	XP_011521075.1:n.*307C>T
XM_011522774.2:c.*307C>T	XP_011521076.1:n.*307C>T
XM_011522775.3:c.*307C>T	XP_011521077.1:n.*307C>T
XM_011522776.2:c.*307C>T	XP_011521078.1:n.*307C>T
XR_001752042.2:n.3353C>T
XR_001752043.2:n.2868C>T
XR_001752044.2:n.2805C>T
XR_932982.3:n.2898C>T
NM_016111.4:c.*307C>T MANE Select	NP_057195.2:n.*307C>T
NM_001351846.2:c.*307C>T	NP_001338775.1:n.*307C>T