Canonical Allele Identifier: CA394217492

Gene: TELO2

Linked Data

• MyVariant Identifiers: chr16:g.1555516G>C (hg19) ; chr16:g.1505515G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1505515G>C , CM000678.2:g.1505515G>C	GRCh38
NC_000016.9:g.1555516G>C , CM000678.1:g.1555516G>C	GRCh37
NC_000016.8:g.1495517G>C	NCBI36
NG_050910.1:g.17172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.1948G>C MANE Select	ENSP00000262319.6:p.Val650Leu
ENST00000262319.10:c.1948G>C	ENSP00000262319.6:p.Val650Leu
ENST00000497339.6:c.1228-758G>C	ENSP00000456383.1:n.1228-758G>C
ENST00000563676.1:n.75G>C
ENST00000564507.5:n.543G>C
ENST00000567423.1:c.368G>C
ENST00000567427.1:n.147G>C
ENST00000569744.1:n.377G>C
NM_016111.3:c.1948G>C	NP_057195.2:p.Val650Leu
XM_006720993.2:c.1948G>C	XP_006721056.1:p.Val650Leu
XM_011522773.1:c.1948G>C	XP_011521075.1:p.Val650Leu
XM_011522774.1:c.1948G>C	XP_011521076.1:p.Val650Leu
XM_011522775.1:c.1948G>C	XP_011521077.1:p.Val650Leu
XM_011522776.1:c.1948G>C	XP_011521078.1:p.Val650Leu
XM_011522777.1:c.1948G>C	XP_011521079.1:p.Val650Leu
XM_011522778.1:c.1948G>C	XP_011521080.1:p.Val650Leu
XR_932982.1:n.2234G>C
XR_932983.1:n.2154G>C
NM_001351846.1:c.1948G>C	NP_001338775.1:p.Val650Leu
XM_011522773.3:c.1948G>C	XP_011521075.1:p.Val650Leu
XM_011522774.2:c.1948G>C	XP_011521076.1:p.Val650Leu
XM_011522775.3:c.1948G>C	XP_011521077.1:p.Val650Leu
XM_011522776.2:c.1948G>C	XP_011521078.1:p.Val650Leu
XM_011522777.3:c.1948G>C	XP_011521079.1:p.Val650Leu
XM_011522778.3:c.1948G>C	XP_011521080.1:p.Val650Leu
XR_001752042.2:n.2012G>C
XR_001752043.2:n.1995G>C
XR_001752044.2:n.1932G>C
XR_932982.3:n.2012G>C
NM_016111.4:c.1948G>C MANE Select	NP_057195.2:p.Val650Leu
NM_001351846.2:c.1948G>C	NP_001338775.1:p.Val650Leu