Canonical Allele Identifier: CA2301092416
Gene: KATNAL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.47059049C>G , CM000680.2:g.47059049C>G GRCh38
NC_000018.9:g.44585420C>G , CM000680.1:g.44585420C>G GRCh37
NC_000018.8:g.42839418C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245121.10:c.235-507C>G ENSP00000245121.4:n.235-507C>G
ENST00000588433.6:c.118-507C>G ENSP00000464779.2:n.118-507C>G
ENST00000591522.2:c.118-507C>G ENSP00000467488.2:n.118-507C>G
ENST00000683218.1:c.451-507C>G MANE Select ENSP00000508137.1:n.451-507C>G
ENST00000685144.1:n.618-507C>G
ENST00000685252.1:n.1278-507C>G
ENST00000685570.1:c.*17-507C>G ENSP00000509944.1:n.*17-507C>G
ENST00000685696.1:c.*473-507C>G ENSP00000510423.1:n.*473-507C>G
ENST00000686215.1:c.448-507C>G ENSP00000510745.1:n.448-507C>G
ENST00000687291.1:c.52-507C>G ENSP00000509033.1:n.52-507C>G
ENST00000687617.1:n.2128-507C>G
ENST00000688194.1:c.*127-507C>G ENSP00000510625.1:n.*127-507C>G
ENST00000688563.1:c.*316-507C>G ENSP00000508482.1:n.*316-507C>G
ENST00000688659.1:n.920-507C>G
ENST00000690453.1:c.*17-507C>G ENSP00000509979.1:n.*17-507C>G
ENST00000356157.12:c.451-507C>G ENSP00000348478.6:n.451-507C>G
ENST00000245121.9:c.235-507C>G ENSP00000245121.4:n.235-507C>G
ENST00000356157.11:c.451-507C>G ENSP00000348478.6:n.451-507C>G
ENST00000585469.5:c.391-507C>G ENSP00000466674.1:n.391-507C>G
ENST00000588433.5:c.120-507C>G
ENST00000592005.5:c.52-16228C>G ENSP00000467610.1:n.52-16228C>G
NM_031303.2:c.235-507C>G NP_112593.2:n.235-507C>G
XM_005258357.3:c.529-507C>G XP_005258414.1:n.529-507C>G
XM_005258358.3:c.526-507C>G XP_005258415.1:n.526-507C>G
XM_005258361.2:c.118-507C>G XP_005258418.1:n.118-507C>G
XM_006722554.2:c.451-507C>G XP_006722617.1:n.451-507C>G
XM_011526219.1:c.529-507C>G XP_011524521.1:n.529-507C>G
XM_011526220.1:c.529-507C>G XP_011524522.1:n.529-507C>G
XM_011526221.1:c.529-507C>G XP_011524523.1:n.529-507C>G
XM_011526222.1:c.232-507C>G XP_011524524.1:n.232-507C>G
XM_011526223.1:c.529-507C>G XP_011524525.1:n.529-507C>G
NM_001353899.1:c.529-507C>G NP_001340828.1:n.529-507C>G
NM_001353900.1:c.526-507C>G NP_001340829.1:n.526-507C>G
NM_001353901.1:c.451-507C>G NP_001340830.1:n.451-507C>G
NM_001353902.1:c.529-507C>G NP_001340831.1:n.529-507C>G
NM_001353903.1:c.118-507C>G NP_001340832.1:n.118-507C>G
NM_001353904.1:c.118-507C>G NP_001340833.1:n.118-507C>G
NM_001353905.1:c.118-507C>G NP_001340834.1:n.118-507C>G
NM_001353906.1:c.118-507C>G NP_001340835.1:n.118-507C>G
NM_001353907.1:c.118-507C>G NP_001340836.1:n.118-507C>G
NM_001353908.1:c.118-507C>G NP_001340837.1:n.118-507C>G
NM_001353909.1:c.118-507C>G NP_001340838.1:n.118-507C>G
NM_031303.3:c.235-507C>G NP_112593.2:n.235-507C>G
NR_148563.1:n.1019-507C>G
XM_005258361.3:c.118-507C>G XP_005258418.1:n.118-507C>G
XM_006722554.4:c.451-507C>G XP_006722617.1:n.451-507C>G
XM_011526219.3:c.529-507C>G XP_011524521.1:n.529-507C>G
XM_011526220.2:c.529-507C>G XP_011524522.1:n.529-507C>G
XM_011526221.3:c.529-507C>G XP_011524523.1:n.529-507C>G
XM_011526223.3:c.529-507C>G XP_011524525.1:n.529-507C>G
XM_017026028.2:c.529-507C>G XP_016881517.1:n.529-507C>G
XM_017026030.2:c.232-507C>G XP_016881519.1:n.232-507C>G
XM_017026031.1:c.118-507C>G XP_016881520.1:n.118-507C>G
XR_001753286.2:n.1066-507C>G
XR_002958187.1:n.1337-507C>G
NM_001367621.1:c.451-507C>G NP_001354550.1:n.451-507C>G
NM_001387690.1:c.451-507C>G MANE Select NP_001374619.1:n.451-507C>G