Canonical Allele Identifier: CA14206250

Gene: TELO2

Linked Data

• dbSNP Id: rs1044603
• gnomAD v2: 16-1560194-G-A
• gnomAD v3: 16-1510193-G-A
• gnomAD v4: 16-1510193-G-A
• MyVariant Identifiers: chr16:g.1560194G>A (hg19) ; chr16:g.1510193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510193G>A , CM000678.2:g.1510193G>A	GRCh38
NC_000016.9:g.1560194G>A , CM000678.1:g.1560194G>A	GRCh37
NC_000016.8:g.1500195G>A	NCBI36
NG_032783.1:g.106916C>T
NG_050910.1:g.21850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.*257G>A MANE Select	ENSP00000262319.6:n.*257G>A
ENST00000262319.10:c.*257G>A	ENSP00000262319.6:n.*257G>A
ENST00000568240.1:n.1063G>A
NM_016111.3:c.*257G>A	NP_057195.2:n.*257G>A
XM_011522773.1:c.*257G>A	XP_011521075.1:n.*257G>A
XM_011522774.1:c.*257G>A	XP_011521076.1:n.*257G>A
XM_011522775.1:c.*257G>A	XP_011521077.1:n.*257G>A
XM_011522776.1:c.*257G>A	XP_011521078.1:n.*257G>A
XR_932982.1:n.3070G>A
NM_001351846.1:c.*257G>A	NP_001338775.1:n.*257G>A
XM_011522773.3:c.*257G>A	XP_011521075.1:n.*257G>A
XM_011522774.2:c.*257G>A	XP_011521076.1:n.*257G>A
XM_011522775.3:c.*257G>A	XP_011521077.1:n.*257G>A
XM_011522776.2:c.*257G>A	XP_011521078.1:n.*257G>A
XR_001752042.2:n.3303G>A
XR_001752043.2:n.2818G>A
XR_001752044.2:n.2755G>A
XR_932982.3:n.2848G>A
NM_016111.4:c.*257G>A MANE Select	NP_057195.2:n.*257G>A
NM_001351846.2:c.*257G>A	NP_001338775.1:n.*257G>A