Canonical Allele Identifier: CA346401738
Community Standard Title: NM_015662.3(IFT172):c.336+2T>G
Gene: IFT172 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27484225A>C , CM000664.2:g.27484225A>C GRCh38
NC_000002.11:g.27707092A>C , CM000664.1:g.27707092A>C GRCh37
NC_000002.10:g.27560596A>C NCBI36
NG_034068.1:g.10587T>G

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.336+2T>G MANE Select NP_056477.1:n.336+2T>G
ENST00000260570.8:c.336+2T>G MANE Select ENSP00000260570.3:n.336+2T>G
NM_015662.2:c.336+2T>G NP_056477.1:n.336+2T>G
ENST00000260570.7:c.336+2T>G ENSP00000260570.3:n.336+2T>G
ENST00000359466.10:c.336+2T>G ENSP00000352443.6:n.336+2T>G
ENST00000416524.2:c.273+2T>G ENSP00000407408.2:n.273+2T>G
ENST00000475476.2:n.439T>G
ENST00000476264.6:n.416+2T>G
ENST00000476264.7:n.428T>G
ENST00000507184.5:n.468+2T>G
ENST00000511842.5:n.361+2T>G
ENST00000674701.1:c.336+2T>G ENSP00000502275.1:n.336+2T>G
ENST00000674824.1:c.273+2T>G ENSP00000501824.1:n.273+2T>G
ENST00000674932.1:c.297-288T>G ENSP00000501967.1:n.297-288T>G
ENST00000675410.1:c.-346+2T>G ENSP00000502030.1:n.-346+2T>G
ENST00000675618.1:n.416+2T>G
ENST00000675690.1:c.336+2T>G ENSP00000502283.1:n.336+2T>G
ENST00000675728.1:c.273+2T>G ENSP00000501700.1:n.273+2T>G
ENST00000675729.1:c.336+2T>G ENSP00000502319.1:n.336+2T>G
ENST00000675925.1:n.1470T>G
ENST00000675963.1:c.336+2T>G ENSP00000502708.1:n.336+2T>G
ENST00000676119.1:c.336+2T>G ENSP00000501701.1:n.336+2T>G
ENST00000676300.1:n.422+2T>G
XM_005264254.1:c.336+2T>G XP_005264311.1:n.336+2T>G
XM_006711986.2:c.273+2T>G XP_006712049.1:n.273+2T>G
XM_006711986.3:c.273+2T>G XP_006712049.1:n.273+2T>G
XM_006711987.1:c.336+2T>G XP_006712050.1:n.336+2T>G
XM_011532757.2:c.-543T>G XP_011531059.1:n.-543T>G
XM_011532758.1:c.336+2T>G XP_011531060.1:n.336+2T>G
XM_017003790.1:c.273+2T>G XP_016859279.1:n.273+2T>G
XM_017003791.1:c.-345-288T>G XP_016859280.1:n.-345-288T>G
XM_017003792.1:c.336+2T>G XP_016859281.1:n.336+2T>G
XM_017003793.1:c.-1114-288T>G XP_016859282.1:n.-1114-288T>G
XM_017003794.1:c.-1115+2T>G XP_016859283.1:n.-1115+2T>G
XM_017003795.1:c.-1684T>G XP_016859284.1:n.-1684T>G
XR_001738698.1:n.391+2T>G