Canonical Allele Identifier: CA346397185

Gene: IFT172

Linked Data

• ClinVar Variation Id: 1000537
• ClinVar RCV Id: RCV001296682
• dbSNP Id: rs1279126964
• MyVariant Identifiers: chr2:g.27702963G>C (hg19) ; chr2:g.27480096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480096G>C , CM000664.2:g.27480096G>C	GRCh38
NC_000002.11:g.27702963G>C , CM000664.1:g.27702963G>C	GRCh37
NC_000002.10:g.27556467G>C	NCBI36
NG_034068.1:g.14716C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.839C>G MANE Select	ENSP00000260570.3:p.Pro280Arg
ENST00000476264.7:n.1128C>G
ENST00000674701.1:c.839C>G	ENSP00000502275.1:p.Pro280Arg
ENST00000674824.1:c.776C>G	ENSP00000501824.1:p.Pro259Arg
ENST00000674932.1:c.*502C>G	ENSP00000501967.1:n.*502C>G
ENST00000675410.1:c.158C>G	ENSP00000502030.1:p.Pro53Arg
ENST00000675618.1:n.919C>G
ENST00000675690.1:c.839C>G	ENSP00000502283.1:p.Pro280Arg
ENST00000675728.1:c.776C>G	ENSP00000501700.1:p.Pro259Arg
ENST00000675729.1:c.839C>G	ENSP00000502319.1:p.Pro280Arg
ENST00000675963.1:c.*537C>G	ENSP00000502708.1:n.*537C>G
ENST00000676119.1:c.*129C>G	ENSP00000501701.1:n.*129C>G
ENST00000676300.1:n.925C>G
ENST00000260570.7:c.839C>G	ENSP00000260570.3:p.Pro280Arg
ENST00000359466.10:c.839C>G	ENSP00000352443.6:p.Pro280Arg
ENST00000416524.2:c.776C>G	ENSP00000407408.2:p.Pro259Arg
ENST00000476264.6:n.785C>G
ENST00000507184.5:n.971C>G
ENST00000511842.5:n.864C>G
NM_015662.2:c.839C>G	NP_056477.1:p.Pro280Arg
XM_005264254.1:c.839C>G	XP_005264311.1:p.Pro280Arg
XM_006711986.2:c.776C>G	XP_006712049.1:p.Pro259Arg
XM_006711987.1:c.839C>G	XP_006712050.1:p.Pro280Arg
XM_011532757.1:c.158C>G	XP_011531059.1:p.Pro53Arg
XM_011532758.1:c.839C>G	XP_011531060.1:p.Pro280Arg
XM_006711986.3:c.776C>G	XP_006712049.1:p.Pro259Arg
XM_011532757.2:c.158C>G	XP_011531059.1:p.Pro53Arg
XM_017003790.1:c.776C>G	XP_016859279.1:p.Pro259Arg
XM_017003791.1:c.158C>G	XP_016859280.1:p.Pro53Arg
XM_017003792.1:c.839C>G	XP_016859281.1:p.Pro280Arg
XM_017003793.1:c.-612C>G	XP_016859282.1:n.-612C>G
XM_017003794.1:c.-612C>G	XP_016859283.1:n.-612C>G
XM_017003795.1:c.-984C>G	XP_016859284.1:n.-984C>G
XR_001738698.1:n.894C>G
NM_015662.3:c.839C>G MANE Select	NP_056477.1:p.Pro280Arg