Canonical Allele Identifier: CA2631005719

Gene: TELO2 IFT140

Linked Data

• gnomAD v4: 16-1510453-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510453A>G , CM000678.2:g.1510453A>G	GRCh38
NC_000016.9:g.1560454A>G , CM000678.1:g.1560454A>G	GRCh37
NC_000016.8:g.1500455A>G	NCBI36
NG_032783.1:g.106656T>C
NG_050910.1:g.22110A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.*517A>G (TELO2) MANE Select	ENSP00000262319.6:n.*517A>G
ENST00000426508.7:c.*491T>C (IFT140) MANE Select	ENSP00000406012.2:n.*491T>C
ENST00000262319.10:c.*517A>G (TELO2)	ENSP00000262319.6:n.*517A>G
ENST00000361339.9:c.*491T>C (IFT140)	ENSP00000354895.5:n.*491T>C
ENST00000397417.6:c.*3318T>C (IFT140)	ENSP00000380562.2:n.*3318T>C
ENST00000426508.6:c.*491T>C (IFT140)	ENSP00000406012.2:n.*491T>C
ENST00000565298.5:n.4704T>C (IFT140)
ENST00000568240.1:n.1323A>G (TELO2)
NM_014714.3:c.*491T>C (IFT140)	NP_055529.2:n.*491T>C
NM_016111.3:c.*517A>G (TELO2)	NP_057195.2:n.*517A>G
XM_006720989.2:c.*491T>C (IFT140)	XP_006721052.1:n.*491T>C
XM_006720990.2:c.*491T>C (IFT140)	XP_006721053.1:n.*491T>C
XM_006720991.2:c.*491T>C (IFT140)	XP_006721054.1:n.*491T>C
XM_006720992.2:c.*491T>C (IFT140)	XP_006721055.1:n.*491T>C
XM_011522766.1:c.*491T>C (IFT140)	XP_011521068.1:n.*491T>C
XM_011522767.1:c.*491T>C (IFT140)	XP_011521069.1:n.*491T>C
XM_011522773.1:c.*517A>G (TELO2)	XP_011521075.1:n.*517A>G
XM_011522774.1:c.*517A>G (TELO2)	XP_011521076.1:n.*517A>G
XM_011522775.1:c.*517A>G (TELO2)	XP_011521077.1:n.*517A>G
XM_011522776.1:c.*517A>G (TELO2)	XP_011521078.1:n.*517A>G
XR_932982.1:n.3330A>G (TELO2)
NM_001351846.1:c.*517A>G (TELO2)	NP_001338775.1:n.*517A>G
XM_006720990.3:c.*491T>C (IFT140)	XP_006721053.1:n.*491T>C
XM_006720991.3:c.*491T>C (IFT140)	XP_006721054.1:n.*491T>C
XM_006720992.3:c.*491T>C (IFT140)	XP_006721055.1:n.*491T>C
XM_011522766.3:c.*491T>C (IFT140)	XP_011521068.1:n.*491T>C
XM_011522767.2:c.*491T>C (IFT140)	XP_011521069.1:n.*491T>C
XM_011522773.3:c.*517A>G (TELO2)	XP_011521075.1:n.*517A>G
XM_011522774.2:c.*517A>G (TELO2)	XP_011521076.1:n.*517A>G
XM_011522775.3:c.*517A>G (TELO2)	XP_011521077.1:n.*517A>G
XM_011522776.2:c.*517A>G (TELO2)	XP_011521078.1:n.*517A>G
XM_017023910.1:c.*491T>C (IFT140)	XP_016879399.1:n.*491T>C
XM_017023911.1:c.*491T>C (IFT140)	XP_016879400.1:n.*491T>C
XR_001752042.2:n.3563A>G (TELO2)
XR_001752043.2:n.3078A>G (TELO2)
XR_001752044.2:n.3015A>G (TELO2)
XR_932982.3:n.3108A>G (TELO2)
NM_014714.4:c.*491T>C (IFT140) MANE Select	NP_055529.2:n.*491T>C
NM_016111.4:c.*517A>G (TELO2) MANE Select	NP_057195.2:n.*517A>G
NM_001351846.2:c.*517A>G (TELO2)	NP_001338775.1:n.*517A>G