Canonical Allele Identifier: CA1208875

Gene: NDUFS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161214152C>G , CM000663.2:g.161214152C>G	GRCh38
NC_000001.10:g.161183942C>G , CM000663.1:g.161183942C>G	GRCh37
NC_000001.9:g.159450566C>G	NCBI36
NG_013352.1:g.19838C>G
NG_029043.1:g.3856C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001377299.1:c.1355-4C>G MANE Select	NP_001364228.1:n.1355-4C>G
ENST00000676972.1:c.1355-4C>G MANE Select	ENSP00000503117.1:n.1355-4C>G
NM_001166159.1:c.*211C>G	NP_001159631.1:n.*211C>G
NM_001166159.2:c.*211C>G	NP_001159631.1:n.*211C>G
NM_001377298.1:c.1355-4C>G	NP_001364227.1:n.1355-4C>G
NM_001377300.1:c.*211C>G	NP_001364229.1:n.*211C>G
NM_001377301.1:c.*211C>G	NP_001364230.1:n.*211C>G
NM_001377302.1:c.*6-4C>G	NP_001364231.1:n.*6-4C>G
NM_004550.4:c.1355-4C>G	NP_004541.1:n.1355-4C>G
NM_004550.5:c.1355-4C>G	NP_004541.1:n.1355-4C>G
NR_165188.1:n.1474C>G
ENST00000367993.7:c.1355-4C>G	ENSP00000356972.3:n.1355-4C>G
ENST00000392179.4:c.*211C>G	ENSP00000376018.4:n.*211C>G
ENST00000392179.5:c.*211C>G	ENSP00000376018.4:n.*211C>G
ENST00000465923.5:n.950C>G
ENST00000465923.6:n.1236C>G
ENST00000467295.6:n.1908-4C>G
ENST00000468828.5:n.692C>G
ENST00000468828.6:n.1412C>G
ENST00000480762.6:n.1815C>G
ENST00000483804.5:n.979-4C>G
ENST00000483804.6:n.867-4C>G
ENST00000493849.5:n.766C>G
ENST00000493849.6:n.2571C>G
ENST00000496553.6:n.2094-4C>G
ENST00000676535.1:n.2067C>G
ENST00000676583.1:c.*1056C>G	ENSP00000503681.1:n.*1056C>G
ENST00000676600.1:c.1355-4C>G	ENSP00000503989.1:n.1355-4C>G
ENST00000676653.1:n.2341C>G
ENST00000676726.1:n.2014C>G
ENST00000676770.1:n.2221-4C>G
ENST00000676795.1:c.*937-4C>G	ENSP00000504650.1:n.*937-4C>G
ENST00000676871.1:n.1894-4C>G
ENST00000676991.1:n.2175C>G
ENST00000677033.1:n.2424-4C>G
ENST00000677045.1:c.*1026-4C>G	ENSP00000504168.1:n.*1026-4C>G
ENST00000677050.1:n.2239C>G
ENST00000677063.1:c.*1256C>G	ENSP00000504572.1:n.*1256C>G
ENST00000677081.1:c.*517C>G	ENSP00000503728.1:n.*517C>G
ENST00000677089.1:n.3139C>G
ENST00000677103.1:n.2050C>G
ENST00000677138.1:c.*562C>G	ENSP00000504839.1:n.*562C>G
ENST00000677178.1:n.2019C>G
ENST00000677231.1:c.*211C>G	ENSP00000503378.1:n.*211C>G
ENST00000677336.1:n.1939C>G
ENST00000677350.1:n.2383C>G
ENST00000677358.1:n.1678C>G
ENST00000677383.1:n.3051C>G
ENST00000677453.1:c.1418-4C>G	ENSP00000503604.1:n.1418-4C>G
ENST00000677457.1:c.*92-4C>G	ENSP00000503294.1:n.*92-4C>G
ENST00000677471.1:n.1709-4C>G
ENST00000677495.1:n.1945C>G
ENST00000677547.1:c.*659C>G	ENSP00000504269.1:n.*659C>G
ENST00000677550.1:c.*211C>G	ENSP00000503353.1:n.*211C>G
ENST00000677577.1:n.4211C>G
ENST00000677579.1:c.*211C>G	ENSP00000504162.1:n.*211C>G
ENST00000677613.1:c.*517C>G	ENSP00000504258.1:n.*517C>G
ENST00000677643.1:n.1994C>G
ENST00000677653.1:c.*730-4C>G	ENSP00000504542.1:n.*730-4C>G
ENST00000677657.1:n.1764-4C>G
ENST00000677736.1:n.2370C>G
ENST00000677745.1:n.2398C>G
ENST00000677807.1:n.1974-4C>G
ENST00000677809.1:n.2153-4C>G
ENST00000677837.1:c.*1089-4C>G	ENSP00000503661.1:n.*1089-4C>G
ENST00000677846.1:c.1418-4C>G	ENSP00000504065.1:n.1418-4C>G
ENST00000677916.1:n.3764C>G
ENST00000677925.1:n.2204C>G
ENST00000677948.1:c.*1040-4C>G	ENSP00000503510.1:n.*1040-4C>G
ENST00000678052.1:n.2966C>G
ENST00000678068.1:n.3316C>G
ENST00000678130.1:n.2296C>G
ENST00000678328.1:n.2310C>G
ENST00000678356.1:n.3791C>G
ENST00000678484.1:n.4080C>G
ENST00000678492.1:n.3975C>G
ENST00000678507.1:c.1355-4C>G	ENSP00000504199.1:n.1355-4C>G
ENST00000678511.1:c.1355-4C>G	ENSP00000504846.1:n.1355-4C>G
ENST00000678532.1:c.*1270C>G	ENSP00000504682.1:n.*1270C>G
ENST00000678559.1:c.*1379C>G	ENSP00000504285.1:n.*1379C>G
ENST00000678605.1:c.*80-4C>G	ENSP00000503969.1:n.*80-4C>G
ENST00000678613.1:n.3844C>G
ENST00000678648.1:n.2255C>G
ENST00000678783.1:c.1280-4C>G	ENSP00000504215.1:n.1280-4C>G
ENST00000678793.1:c.*908C>G	ENSP00000503431.1:n.*908C>G
ENST00000678850.1:n.1715-4C>G
ENST00000678880.1:c.*1126C>G	ENSP00000503015.1:n.*1126C>G
ENST00000678911.1:c.1277-4C>G	ENSP00000503946.1:n.1277-4C>G
ENST00000678966.1:n.1773-4C>G
ENST00000678982.1:c.*1158-4C>G	ENSP00000504597.1:n.*1158-4C>G
ENST00000679064.1:c.*450C>G	ENSP00000502868.1:n.*450C>G
ENST00000679071.1:n.1887-4C>G
ENST00000679142.1:c.1685C>G	ENSP00000504800.1:n.1685C>G
ENST00000679169.1:c.*1349C>G	ENSP00000504096.1:n.*1349C>G
ENST00000679176.1:c.*211C>G	ENSP00000504170.1:n.*211C>G
ENST00000679215.1:n.2479C>G
ENST00000679239.1:c.*960C>G	ENSP00000504555.1:n.*960C>G
ENST00000679282.1:c.*220-4C>G	ENSP00000504533.1:n.*220-4C>G
XM_005245208.1:c.1355-4C>G	XP_005245265.1:n.1355-4C>G
XM_005245209.1:c.1061-4C>G	XP_005245266.1:n.1061-4C>G
XM_005245209.2:c.1061-4C>G	XP_005245266.1:n.1061-4C>G