Canonical Allele Identifier: CA2504118
Community Standard Title: NM_001174150.2(ARL13B):c.689+2T>G
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94036756T>G , CM000665.2:g.94036756T>G GRCh38
NC_000003.11:g.93755600T>G , CM000665.1:g.93755600T>G GRCh37
NC_000003.10:g.95238290T>G NCBI36
NG_017076.1:g.61618T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.689+2T>G MANE Select NP_001167621.1:n.689+2T>G
ENST00000394222.8:c.689+2T>G MANE Select ENSP00000377769.3:n.689+2T>G
NM_001174150.1:c.689+2T>G NP_001167621.1:n.689+2T>G
NM_001174151.1:c.380+2T>G NP_001167622.1:n.380+2T>G
NM_001174151.2:c.380+2T>G NP_001167622.1:n.380+2T>G
NM_001321328.1:c.644+2T>G NP_001308257.1:n.644+2T>G
NM_001321328.2:c.644+2T>G NP_001308257.1:n.644+2T>G
NM_144996.3:c.368+2T>G NP_659433.2:n.368+2T>G
NM_144996.4:c.368+2T>G NP_659433.2:n.368+2T>G
NM_182896.2:c.689+2T>G NP_878899.1:n.689+2T>G
NM_182896.3:c.689+2T>G NP_878899.1:n.689+2T>G
NR_033427.1:n.729+2T>G
NR_033427.2:n.713+2T>G
NR_135621.1:n.720+2T>G
NR_135621.2:n.704+2T>G
ENST00000303097.11:c.368+2T>G ENSP00000306225.7:n.368+2T>G
ENST00000335438.7:c.*541+2T>G ENSP00000335400.3:n.*541+2T>G
ENST00000394222.7:c.689+2T>G ENSP00000377769.3:n.689+2T>G
ENST00000460371.5:c.*162+2T>G ENSP00000417263.1:n.*162+2T>G
ENST00000471138.5:c.689+2T>G ENSP00000420780.1:n.689+2T>G
ENST00000486562.1:n.645+2T>G
ENST00000486562.2:c.368+2T>G ENSP00000505366.1:n.368+2T>G
ENST00000535334.5:c.380+2T>G ENSP00000445145.1:n.380+2T>G
ENST00000679404.1:c.614+2T>G ENSP00000505252.1:n.614+2T>G
ENST00000679587.1:c.689+2T>G ENSP00000505396.1:n.689+2T>G
ENST00000679601.1:c.*541+2T>G ENSP00000506200.1:n.*541+2T>G
ENST00000679607.1:c.-149+2T>G ENSP00000505148.1:n.-149+2T>G
ENST00000679654.1:c.*297+2T>G ENSP00000505178.1:n.*297+2T>G
ENST00000679657.1:c.-32-12650T>G ENSP00000505494.1:n.-32-12650T>G
ENST00000679666.1:c.317+2T>G ENSP00000506469.1:n.317+2T>G
ENST00000679739.1:c.*97+2T>G ENSP00000506703.1:n.*97+2T>G
ENST00000679872.1:c.638+2T>G ENSP00000505607.1:n.638+2T>G
ENST00000680414.1:c.*435+2T>G ENSP00000506063.1:n.*435+2T>G
ENST00000680430.1:c.938+2T>G ENSP00000504943.1:n.938+2T>G
ENST00000680994.1:n.719+2T>G
ENST00000681013.1:c.*97+2T>G ENSP00000506243.1:n.*97+2T>G
ENST00000681247.1:c.*97+2T>G ENSP00000505168.1:n.*97+2T>G
ENST00000681377.1:n.1021+2T>G
ENST00000681380.1:c.689+2T>G ENSP00000505402.1:n.689+2T>G
ENST00000681655.1:c.614+2T>G ENSP00000505036.1:n.614+2T>G
XM_006713531.2:c.644+2T>G XP_006713594.1:n.644+2T>G
XM_006713532.2:c.644+2T>G XP_006713595.1:n.644+2T>G
XM_006713532.3:c.644+2T>G XP_006713595.1:n.644+2T>G
XM_011512532.1:c.653+2T>G XP_011510834.1:n.653+2T>G
XM_011512532.2:c.653+2T>G XP_011510834.1:n.653+2T>G
XM_011512533.1:c.653+2T>G XP_011510835.1:n.653+2T>G
XM_011512533.2:c.653+2T>G XP_011510835.1:n.653+2T>G
XM_011512534.1:c.644+2T>G XP_011510836.1:n.644+2T>G
XM_011512534.2:c.644+2T>G XP_011510836.1:n.644+2T>G
XM_011512535.1:c.614+2T>G XP_011510837.1:n.614+2T>G
XM_011512535.2:c.614+2T>G XP_011510837.1:n.614+2T>G
XM_011512536.1:c.380+2T>G XP_011510838.1:n.380+2T>G
XM_017005853.1:c.380+2T>G XP_016861342.1:n.380+2T>G