Canonical Allele Identifier: CA276667842

Gene: TELO2 IFT140

Linked Data

• dbSNP Id: rs997729554
• gnomAD v4: 16-1510444-C-T
• MyVariant Identifiers: chr16:g.1560445C>T (hg19) ; chr16:g.1510444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510444C>T , CM000678.2:g.1510444C>T	GRCh38
NC_000016.9:g.1560445C>T , CM000678.1:g.1560445C>T	GRCh37
NC_000016.8:g.1500446C>T	NCBI36
NG_032783.1:g.106665G>A
NG_050910.1:g.22101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262319.11:c.*508C>T (TELO2) MANE Select	ENSP00000262319.6:n.*508C>T
ENST00000426508.7:c.*500G>A (IFT140) MANE Select	ENSP00000406012.2:n.*500G>A
ENST00000262319.10:c.*508C>T (TELO2)	ENSP00000262319.6:n.*508C>T
ENST00000361339.9:c.*500G>A (IFT140)	ENSP00000354895.5:n.*500G>A
ENST00000397417.6:c.*3327G>A (IFT140)	ENSP00000380562.2:n.*3327G>A
ENST00000426508.6:c.*500G>A (IFT140)	ENSP00000406012.2:n.*500G>A
ENST00000565298.5:n.4713G>A (IFT140)
ENST00000568240.1:n.1314C>T (TELO2)
NM_014714.3:c.*500G>A (IFT140)	NP_055529.2:n.*500G>A
NM_016111.3:c.*508C>T (TELO2)	NP_057195.2:n.*508C>T
XM_006720989.2:c.*500G>A (IFT140)	XP_006721052.1:n.*500G>A
XM_006720990.2:c.*500G>A (IFT140)	XP_006721053.1:n.*500G>A
XM_006720991.2:c.*500G>A (IFT140)	XP_006721054.1:n.*500G>A
XM_006720992.2:c.*500G>A (IFT140)	XP_006721055.1:n.*500G>A
XM_011522766.1:c.*500G>A (IFT140)	XP_011521068.1:n.*500G>A
XM_011522767.1:c.*500G>A (IFT140)	XP_011521069.1:n.*500G>A
XM_011522773.1:c.*508C>T (TELO2)	XP_011521075.1:n.*508C>T
XM_011522774.1:c.*508C>T (TELO2)	XP_011521076.1:n.*508C>T
XM_011522775.1:c.*508C>T (TELO2)	XP_011521077.1:n.*508C>T
XM_011522776.1:c.*508C>T (TELO2)	XP_011521078.1:n.*508C>T
XR_932982.1:n.3321C>T (TELO2)
NM_001351846.1:c.*508C>T (TELO2)	NP_001338775.1:n.*508C>T
XM_006720990.3:c.*500G>A (IFT140)	XP_006721053.1:n.*500G>A
XM_006720991.3:c.*500G>A (IFT140)	XP_006721054.1:n.*500G>A
XM_006720992.3:c.*500G>A (IFT140)	XP_006721055.1:n.*500G>A
XM_011522766.3:c.*500G>A (IFT140)	XP_011521068.1:n.*500G>A
XM_011522767.2:c.*500G>A (IFT140)	XP_011521069.1:n.*500G>A
XM_011522773.3:c.*508C>T (TELO2)	XP_011521075.1:n.*508C>T
XM_011522774.2:c.*508C>T (TELO2)	XP_011521076.1:n.*508C>T
XM_011522775.3:c.*508C>T (TELO2)	XP_011521077.1:n.*508C>T
XM_011522776.2:c.*508C>T (TELO2)	XP_011521078.1:n.*508C>T
XM_017023910.1:c.*500G>A (IFT140)	XP_016879399.1:n.*500G>A
XM_017023911.1:c.*500G>A (IFT140)	XP_016879400.1:n.*500G>A
XR_001752042.2:n.3554C>T (TELO2)
XR_001752043.2:n.3069C>T (TELO2)
XR_001752044.2:n.3006C>T (TELO2)
XR_932982.3:n.3099C>T (TELO2)
NM_014714.4:c.*500G>A (IFT140) MANE Select	NP_055529.2:n.*500G>A
NM_016111.4:c.*508C>T (TELO2) MANE Select	NP_057195.2:n.*508C>T
NM_001351846.2:c.*508C>T (TELO2)	NP_001338775.1:n.*508C>T