Canonical Allele Identifier: CA346397280

Gene: IFT172

Linked Data

• dbSNP Id: rs1269755860
• gnomAD v2: 2-27702977-C-A
• gnomAD v4: 2-27480110-C-A
• MyVariant Identifiers: chr2:g.27702977C>A (hg19) ; chr2:g.27480110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480110C>A , CM000664.2:g.27480110C>A	GRCh38
NC_000002.11:g.27702977C>A , CM000664.1:g.27702977C>A	GRCh37
NC_000002.10:g.27556481C>A	NCBI36
NG_034068.1:g.14702G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.825G>T MANE Select	ENSP00000260570.3:p.Trp275Cys
ENST00000476264.7:n.1114G>T
ENST00000674701.1:c.825G>T	ENSP00000502275.1:p.Trp275Cys
ENST00000674824.1:c.762G>T	ENSP00000501824.1:p.Trp254Cys
ENST00000674932.1:c.*488G>T	ENSP00000501967.1:n.*488G>T
ENST00000675410.1:c.144G>T	ENSP00000502030.1:p.Trp48Cys
ENST00000675618.1:n.905G>T
ENST00000675690.1:c.825G>T	ENSP00000502283.1:p.Trp275Cys
ENST00000675728.1:c.762G>T	ENSP00000501700.1:p.Trp254Cys
ENST00000675729.1:c.825G>T	ENSP00000502319.1:p.Trp275Cys
ENST00000675963.1:c.*523G>T	ENSP00000502708.1:n.*523G>T
ENST00000676119.1:c.*115G>T	ENSP00000501701.1:n.*115G>T
ENST00000676300.1:n.911G>T
ENST00000260570.7:c.825G>T	ENSP00000260570.3:p.Trp275Cys
ENST00000359466.10:c.825G>T	ENSP00000352443.6:p.Trp275Cys
ENST00000416524.2:c.762G>T	ENSP00000407408.2:p.Trp254Cys
ENST00000476264.6:n.771G>T
ENST00000507184.5:n.957G>T
ENST00000511842.5:n.850G>T
NM_015662.2:c.825G>T	NP_056477.1:p.Trp275Cys
XM_005264254.1:c.825G>T	XP_005264311.1:p.Trp275Cys
XM_006711986.2:c.762G>T	XP_006712049.1:p.Trp254Cys
XM_006711987.1:c.825G>T	XP_006712050.1:p.Trp275Cys
XM_011532757.1:c.144G>T	XP_011531059.1:p.Trp48Cys
XM_011532758.1:c.825G>T	XP_011531060.1:p.Trp275Cys
XM_006711986.3:c.762G>T	XP_006712049.1:p.Trp254Cys
XM_011532757.2:c.144G>T	XP_011531059.1:p.Trp48Cys
XM_017003790.1:c.762G>T	XP_016859279.1:p.Trp254Cys
XM_017003791.1:c.144G>T	XP_016859280.1:p.Trp48Cys
XM_017003792.1:c.825G>T	XP_016859281.1:p.Trp275Cys
XM_017003793.1:c.-626G>T	XP_016859282.1:n.-626G>T
XM_017003794.1:c.-626G>T	XP_016859283.1:n.-626G>T
XM_017003795.1:c.-998G>T	XP_016859284.1:n.-998G>T
XR_001738698.1:n.880G>T
NM_015662.3:c.825G>T MANE Select	NP_056477.1:p.Trp275Cys