Canonical Allele Identifier: CA118442
Gene: NDUFS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6710
ClinVar RCV Id: RCV000007102
dbSNP Id: rs121434428

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161209915C>A , CM000663.2:g.161209915C>A GRCh38
NC_000001.10:g.161179705C>A , CM000663.1:g.161179705C>A GRCh37
NC_000001.9:g.159446329C>A NCBI36
NG_013352.1:g.15601C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000392179.5:c.686C>A ENSP00000376018.4:p.Pro229Gln
ENST00000465923.6:n.337C>A
ENST00000467295.6:n.1214C>A
ENST00000468828.6:n.513C>A
ENST00000480762.6:n.600C>A
ENST00000483804.6:n.198C>A
ENST00000493849.6:n.1046C>A
ENST00000496553.6:n.1425C>A
ENST00000676535.1:n.989C>A
ENST00000676583.1:c.*61C>A ENSP00000503681.1:n.*61C>A
ENST00000676600.1:c.686C>A ENSP00000503989.1:p.Pro229Gln
ENST00000676653.1:n.1263C>A
ENST00000676726.1:n.799C>A
ENST00000676770.1:n.1552C>A
ENST00000676795.1:c.*268C>A ENSP00000504650.1:n.*268C>A
ENST00000676871.1:n.1046C>A
ENST00000676972.1:c.686C>A MANE Select ENSP00000503117.1:p.Pro229Gln
ENST00000676991.1:n.1406C>A
ENST00000677033.1:n.1755C>A
ENST00000677045.1:c.*357C>A ENSP00000504168.1:n.*357C>A
ENST00000677050.1:n.1046C>A
ENST00000677063.1:c.*357C>A ENSP00000504572.1:n.*357C>A
ENST00000677081.1:c.686C>A ENSP00000503728.1:p.Pro229Gln
ENST00000677089.1:n.600C>A
ENST00000677103.1:n.656C>A
ENST00000677138.1:c.686C>A ENSP00000504839.1:p.Pro229Gln
ENST00000677178.1:n.989C>A
ENST00000677231.1:c.686C>A ENSP00000503378.1:p.Pro229Gln
ENST00000677336.1:n.861C>A
ENST00000677350.1:n.989C>A
ENST00000677358.1:n.600C>A
ENST00000677383.1:n.989C>A
ENST00000677453.1:c.686C>A ENSP00000503604.1:p.Pro229Gln
ENST00000677457.1:c.686C>A ENSP00000503294.1:p.Pro229Gln
ENST00000677471.1:n.861C>A
ENST00000677495.1:n.1046C>A
ENST00000677547.1:c.686C>A ENSP00000504269.1:p.Pro229Gln
ENST00000677550.1:c.686C>A ENSP00000503353.1:p.Pro229Gln
ENST00000677577.1:n.1046C>A
ENST00000677579.1:c.686C>A ENSP00000504162.1:p.Pro229Gln
ENST00000677613.1:c.686C>A ENSP00000504258.1:p.Pro229Gln
ENST00000677643.1:n.600C>A
ENST00000677653.1:c.*61C>A ENSP00000504542.1:n.*61C>A
ENST00000677657.1:n.1046C>A
ENST00000677736.1:n.1046C>A
ENST00000677745.1:n.600C>A
ENST00000677807.1:n.989C>A
ENST00000677809.1:n.989C>A
ENST00000677837.1:c.*357C>A ENSP00000503661.1:n.*357C>A
ENST00000677846.1:c.686C>A ENSP00000504065.1:p.Pro229Gln
ENST00000677916.1:n.1046C>A
ENST00000677925.1:n.989C>A
ENST00000677948.1:c.*371C>A ENSP00000503510.1:n.*371C>A
ENST00000678052.1:n.989C>A
ENST00000678068.1:n.1922C>A
ENST00000678130.1:n.1397C>A
ENST00000678328.1:n.1046C>A
ENST00000678356.1:n.1367C>A
ENST00000678484.1:n.1046C>A
ENST00000678492.1:n.989C>A
ENST00000678507.1:c.686C>A ENSP00000504199.1:p.Pro229Gln
ENST00000678511.1:c.686C>A ENSP00000504846.1:p.Pro229Gln
ENST00000678532.1:c.*371C>A ENSP00000504682.1:n.*371C>A
ENST00000678559.1:c.*480C>A ENSP00000504285.1:n.*480C>A
ENST00000678605.1:c.686C>A ENSP00000503969.1:p.Pro229Gln
ENST00000678613.1:n.989C>A
ENST00000678648.1:n.861C>A
ENST00000678783.1:c.628-196C>A ENSP00000504215.1:n.628-196C>A
ENST00000678793.1:c.686C>A ENSP00000503431.1:p.Pro229Gln
ENST00000678850.1:n.1046C>A
ENST00000678880.1:c.*357C>A ENSP00000503015.1:n.*357C>A
ENST00000678911.1:c.686C>A ENSP00000503946.1:p.Pro229Gln
ENST00000678966.1:n.989C>A
ENST00000678982.1:c.*357C>A ENSP00000504597.1:n.*357C>A
ENST00000679064.1:c.686C>A ENSP00000502868.1:p.Pro229Gln
ENST00000679071.1:n.1039C>A
ENST00000679142.1:c.786C>A ENSP00000504800.1:n.786C>A
ENST00000679169.1:c.*357C>A ENSP00000504096.1:n.*357C>A
ENST00000679176.1:c.686C>A ENSP00000504170.1:p.Pro229Gln
ENST00000679215.1:n.989C>A
ENST00000679218.1:c.737C>A ENSP00000504577.1:p.Pro246Gln
ENST00000679239.1:c.*61C>A ENSP00000504555.1:n.*61C>A
ENST00000679282.1:c.686C>A ENSP00000504533.1:p.Pro229Gln
ENST00000367993.7:c.686C>A ENSP00000356972.3:p.Pro229Gln
ENST00000392179.4:c.686C>A ENSP00000376018.4:p.Pro229Gln
ENST00000465923.5:n.51C>A
ENST00000467295.5:n.774C>A
ENST00000478866.5:n.696C>A
ENST00000480762.5:n.172C>A
ENST00000483804.5:n.247C>A
NM_001166159.1:c.686C>A NP_001159631.1:p.Pro229Gln
NM_004550.4:c.686C>A NP_004541.1:p.Pro229Gln
XM_005245208.1:c.686C>A XP_005245265.1:p.Pro229Gln
XM_005245209.1:c.392C>A XP_005245266.1:p.Pro131Gln
XM_005245209.2:c.392C>A XP_005245266.1:p.Pro131Gln
NM_001166159.2:c.686C>A NP_001159631.1:p.Pro229Gln
NM_001377298.1:c.686C>A NP_001364227.1:p.Pro229Gln
NM_001377299.1:c.686C>A MANE Select NP_001364228.1:p.Pro229Gln
NM_001377300.1:c.686C>A NP_001364229.1:p.Pro229Gln
NM_001377301.1:c.686C>A NP_001364230.1:p.Pro229Gln
NM_001377302.1:c.686C>A NP_001364231.1:p.Pro229Gln
NR_165188.1:n.705C>A
NM_004550.5:c.686C>A NP_004541.1:p.Pro229Gln