Canonical Allele Identifier: CA1208850

Gene: NDUFS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161213891C>T , CM000663.2:g.161213891C>T	GRCh38
NC_000001.10:g.161183681C>T , CM000663.1:g.161183681C>T	GRCh37
NC_000001.9:g.159450305C>T	NCBI36
NG_013352.1:g.19577C>T
NG_029043.1:g.3595C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392179.5:c.1324C>T	ENSP00000376018.4:p.His442Tyr
ENST00000465923.6:n.975C>T
ENST00000467295.6:n.1852C>T
ENST00000468828.6:n.1151C>T
ENST00000480762.6:n.1554C>T
ENST00000483804.6:n.836C>T
ENST00000493849.6:n.2310C>T
ENST00000496553.6:n.2063C>T
ENST00000676535.1:n.1806C>T
ENST00000676583.1:c.*795C>T	ENSP00000503681.1:n.*795C>T
ENST00000676600.1:c.1324C>T	ENSP00000503989.1:p.His442Tyr
ENST00000676653.1:n.2080C>T
ENST00000676726.1:n.1753C>T
ENST00000676770.1:n.2190C>T
ENST00000676795.1:c.*906C>T	ENSP00000504650.1:n.*906C>T
ENST00000676871.1:n.1863C>T
ENST00000676972.1:c.1324C>T MANE Select	ENSP00000503117.1:p.His442Tyr
ENST00000676991.1:n.1914C>T
ENST00000677033.1:n.2393C>T
ENST00000677045.1:c.*995C>T	ENSP00000504168.1:n.*995C>T
ENST00000677050.1:n.1978C>T
ENST00000677063.1:c.*995C>T	ENSP00000504572.1:n.*995C>T
ENST00000677081.1:c.*256C>T	ENSP00000503728.1:n.*256C>T
ENST00000677089.1:n.2878C>T
ENST00000677103.1:n.1789C>T
ENST00000677138.1:c.*301C>T	ENSP00000504839.1:n.*301C>T
ENST00000677178.1:n.1758C>T
ENST00000677231.1:c.1246C>T	ENSP00000503378.1:p.His416Tyr
ENST00000677336.1:n.1678C>T
ENST00000677350.1:n.2122C>T
ENST00000677358.1:n.1417C>T
ENST00000677383.1:n.2790C>T
ENST00000677453.1:c.1387C>T	ENSP00000503604.1:p.His463Tyr
ENST00000677457.1:c.1324C>T	ENSP00000503294.1:p.His442Tyr
ENST00000677471.1:n.1678C>T
ENST00000677495.1:n.1684C>T
ENST00000677547.1:c.*398C>T	ENSP00000504269.1:n.*398C>T
ENST00000677550.1:c.1324C>T	ENSP00000503353.1:p.His442Tyr
ENST00000677577.1:n.3950C>T
ENST00000677579.1:c.1387C>T	ENSP00000504162.1:p.His463Tyr
ENST00000677613.1:c.*256C>T	ENSP00000504258.1:n.*256C>T
ENST00000677643.1:n.1733C>T
ENST00000677653.1:c.*699C>T	ENSP00000504542.1:n.*699C>T
ENST00000677657.1:n.1733C>T
ENST00000677736.1:n.2109C>T
ENST00000677745.1:n.2137C>T
ENST00000677807.1:n.1943C>T
ENST00000677809.1:n.2122C>T
ENST00000677837.1:c.*1058C>T	ENSP00000503661.1:n.*1058C>T
ENST00000677846.1:c.1387C>T	ENSP00000504065.1:p.His463Tyr
ENST00000677916.1:n.3503C>T
ENST00000677925.1:n.1943C>T
ENST00000677948.1:c.*1009C>T	ENSP00000503510.1:n.*1009C>T
ENST00000678052.1:n.2705C>T
ENST00000678068.1:n.3055C>T
ENST00000678130.1:n.2035C>T
ENST00000678328.1:n.2049C>T
ENST00000678356.1:n.3530C>T
ENST00000678484.1:n.3819C>T
ENST00000678492.1:n.3714C>T
ENST00000678507.1:c.1324C>T	ENSP00000504199.1:p.His442Tyr
ENST00000678511.1:c.1324C>T	ENSP00000504846.1:p.His442Tyr
ENST00000678532.1:c.*1009C>T	ENSP00000504682.1:n.*1009C>T
ENST00000678559.1:c.*1118C>T	ENSP00000504285.1:n.*1118C>T
ENST00000678605.1:c.1324C>T	ENSP00000503969.1:p.His442Tyr
ENST00000678613.1:n.3583C>T
ENST00000678648.1:n.1994C>T
ENST00000678783.1:c.1249C>T	ENSP00000504215.1:p.His417Tyr
ENST00000678793.1:c.*647C>T	ENSP00000503431.1:n.*647C>T
ENST00000678850.1:n.1684C>T
ENST00000678880.1:c.*865C>T	ENSP00000503015.1:n.*865C>T
ENST00000678911.1:c.1246C>T	ENSP00000503946.1:p.His416Tyr
ENST00000678966.1:n.1742C>T
ENST00000678982.1:c.*995C>T	ENSP00000504597.1:n.*995C>T
ENST00000679064.1:c.*189C>T	ENSP00000502868.1:n.*189C>T
ENST00000679071.1:n.1856C>T
ENST00000679142.1:c.1424C>T	ENSP00000504800.1:n.1424C>T
ENST00000679169.1:c.*1088C>T	ENSP00000504096.1:n.*1088C>T
ENST00000679176.1:c.1324C>T	ENSP00000504170.1:p.His442Tyr
ENST00000679215.1:n.2218C>T
ENST00000679239.1:c.*699C>T	ENSP00000504555.1:n.*699C>T
ENST00000679282.1:c.*189C>T	ENSP00000504533.1:n.*189C>T
ENST00000367993.7:c.1324C>T	ENSP00000356972.3:p.His442Tyr
ENST00000392179.4:c.1324C>T	ENSP00000376018.4:p.His442Tyr
ENST00000465923.5:n.689C>T
ENST00000468828.5:n.431C>T
ENST00000483804.5:n.948C>T
ENST00000492153.1:n.338C>T
ENST00000493849.5:n.505C>T
NM_001166159.1:c.1324C>T	NP_001159631.1:p.His442Tyr
NM_004550.4:c.1324C>T	NP_004541.1:p.His442Tyr
XM_005245208.1:c.1324C>T	XP_005245265.1:p.His442Tyr
XM_005245209.1:c.1030C>T	XP_005245266.1:p.His344Tyr
XM_005245209.2:c.1030C>T	XP_005245266.1:p.His344Tyr
NM_001166159.2:c.1324C>T	NP_001159631.1:p.His442Tyr
NM_001377298.1:c.1324C>T	NP_001364227.1:p.His442Tyr
NM_001377299.1:c.1324C>T MANE Select	NP_001364228.1:p.His442Tyr
NM_001377300.1:c.1324C>T	NP_001364229.1:p.His442Tyr
NM_001377301.1:c.1324C>T	NP_001364230.1:p.His442Tyr
NM_001377302.1:c.1324C>T	NP_001364231.1:p.His442Tyr
NR_165188.1:n.1213C>T
NM_004550.5:c.1324C>T	NP_004541.1:p.His442Tyr