Canonical Allele Identifier: CA346397338

Gene: IFT172

Linked Data

• dbSNP Id: rs1465330436
• gnomAD v2: 2-27702985-T-G
• gnomAD v4: 2-27480118-T-G
• MyVariant Identifiers: chr2:g.27702985T>G (hg19) ; chr2:g.27480118T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480118T>G , CM000664.2:g.27480118T>G	GRCh38
NC_000002.11:g.27702985T>G , CM000664.1:g.27702985T>G	GRCh37
NC_000002.10:g.27556489T>G	NCBI36
NG_034068.1:g.14694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.817A>C MANE Select	ENSP00000260570.3:p.Ser273Arg
ENST00000476264.7:n.1106A>C
ENST00000674701.1:c.817A>C	ENSP00000502275.1:p.Ser273Arg
ENST00000674824.1:c.754A>C	ENSP00000501824.1:p.Ser252Arg
ENST00000674932.1:c.*480A>C	ENSP00000501967.1:n.*480A>C
ENST00000675410.1:c.136A>C	ENSP00000502030.1:p.Ser46Arg
ENST00000675618.1:n.897A>C
ENST00000675690.1:c.817A>C	ENSP00000502283.1:p.Ser273Arg
ENST00000675728.1:c.754A>C	ENSP00000501700.1:p.Ser252Arg
ENST00000675729.1:c.817A>C	ENSP00000502319.1:p.Ser273Arg
ENST00000675963.1:c.*515A>C	ENSP00000502708.1:n.*515A>C
ENST00000676119.1:c.*107A>C	ENSP00000501701.1:n.*107A>C
ENST00000676300.1:n.903A>C
ENST00000260570.7:c.817A>C	ENSP00000260570.3:p.Ser273Arg
ENST00000359466.10:c.817A>C	ENSP00000352443.6:p.Ser273Arg
ENST00000416524.2:c.754A>C	ENSP00000407408.2:p.Ser252Arg
ENST00000476264.6:n.763A>C
ENST00000507184.5:n.949A>C
ENST00000511842.5:n.842A>C
NM_015662.2:c.817A>C	NP_056477.1:p.Ser273Arg
XM_005264254.1:c.817A>C	XP_005264311.1:p.Ser273Arg
XM_006711986.2:c.754A>C	XP_006712049.1:p.Ser252Arg
XM_006711987.1:c.817A>C	XP_006712050.1:p.Ser273Arg
XM_011532757.1:c.136A>C	XP_011531059.1:p.Ser46Arg
XM_011532758.1:c.817A>C	XP_011531060.1:p.Ser273Arg
XM_006711986.3:c.754A>C	XP_006712049.1:p.Ser252Arg
XM_011532757.2:c.136A>C	XP_011531059.1:p.Ser46Arg
XM_017003790.1:c.754A>C	XP_016859279.1:p.Ser252Arg
XM_017003791.1:c.136A>C	XP_016859280.1:p.Ser46Arg
XM_017003792.1:c.817A>C	XP_016859281.1:p.Ser273Arg
XM_017003793.1:c.-634A>C	XP_016859282.1:n.-634A>C
XM_017003794.1:c.-634A>C	XP_016859283.1:n.-634A>C
XM_017003795.1:c.-1006A>C	XP_016859284.1:n.-1006A>C
XR_001738698.1:n.872A>C
NM_015662.3:c.817A>C MANE Select	NP_056477.1:p.Ser273Arg