Canonical Allele Identifier: CA14528866
Gene: NDUFV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.9109486T>G , CM000680.2:g.9109486T>G GRCh38
NC_000018.9:g.9109484T>G , CM000680.1:g.9109484T>G GRCh37
NC_000018.8:g.9099484T>G NCBI36
NG_013355.1:g.11857T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318388.11:c.54+6689T>G MANE Select ENSP00000327268.6:n.54+6689T>G
ENST00000318388.10:c.54+6689T>G ENSP00000327268.6:n.54+6689T>G
ENST00000400033.1:c.63+4507T>G ENSP00000382908.1:n.63+4507T>G
ENST00000577703.1:c.*570+6053T>G ENSP00000461911.1:n.*570+6053T>G
ENST00000583375.5:n.145+6524T>G
NM_021074.4:c.54+6689T>G NP_066552.2:n.54+6689T>G
XR_243808.1:n.156+6689T>G
XR_002958175.1:n.156+6689T>G
XR_243808.3:n.71+6689T>G
NM_021074.5:c.54+6689T>G MANE Select NP_066552.2:n.54+6689T>G