Canonical Allele Identifier: CA620343043

Gene: TELO2

Linked Data

• dbSNP Id: rs1175436127
• gnomAD v2: 16-1560188-G-C
• gnomAD v3: 16-1510187-G-C
• gnomAD v4: 16-1510187-G-C
• MyVariant Identifiers: chr16:g.1560188G>C (hg19) ; chr16:g.1510187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510187G>C , CM000678.2:g.1510187G>C	GRCh38
NC_000016.9:g.1560188G>C , CM000678.1:g.1560188G>C	GRCh37
NC_000016.8:g.1500189G>C	NCBI36
NG_032783.1:g.106922C>G
NG_050910.1:g.21844G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.*251G>C MANE Select	ENSP00000262319.6:n.*251G>C
ENST00000262319.10:c.*251G>C	ENSP00000262319.6:n.*251G>C
ENST00000568240.1:n.1057G>C
NM_016111.3:c.*251G>C	NP_057195.2:n.*251G>C
XM_011522773.1:c.*251G>C	XP_011521075.1:n.*251G>C
XM_011522774.1:c.*251G>C	XP_011521076.1:n.*251G>C
XM_011522775.1:c.*251G>C	XP_011521077.1:n.*251G>C
XM_011522776.1:c.*251G>C	XP_011521078.1:n.*251G>C
XR_932982.1:n.3064G>C
NM_001351846.1:c.*251G>C	NP_001338775.1:n.*251G>C
XM_011522773.3:c.*251G>C	XP_011521075.1:n.*251G>C
XM_011522774.2:c.*251G>C	XP_011521076.1:n.*251G>C
XM_011522775.3:c.*251G>C	XP_011521077.1:n.*251G>C
XM_011522776.2:c.*251G>C	XP_011521078.1:n.*251G>C
XR_001752042.2:n.3297G>C
XR_001752043.2:n.2812G>C
XR_001752044.2:n.2749G>C
XR_932982.3:n.2842G>C
NM_016111.4:c.*251G>C MANE Select	NP_057195.2:n.*251G>C
NM_001351846.2:c.*251G>C	NP_001338775.1:n.*251G>C