Canonical Allele Identifier: CA401858314
Community Standard Title: NM_021074.5(NDUFV2):c.614T>C (p.Ile205Thr)
Gene: NDUFV2 HGNC NCBI
NDUFV2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.9126865T>C , CM000680.2:g.9126865T>C GRCh38
NC_000018.9:g.9126863T>C , CM000680.1:g.9126863T>C GRCh37
NC_000018.8:g.9116863T>C NCBI36
NG_013355.1:g.29236T>C

Transcript Alleles

HGVS Amino-acid Change
NM_021074.5:c.614T>C (NDUFV2) MANE Select NP_066552.2:p.Ile205Thr
ENST00000318388.11:c.614T>C (NDUFV2) MANE Select ENSP00000327268.6:p.Ile205Thr
NM_021074.4:c.614T>C (NDUFV2) NP_066552.2:p.Ile205Thr
NR_110771.1:n.653+5358A>G (NDUFV2-AS1)
NR_110772.1:n.478-5409A>G (NDUFV2-AS1)
ENST00000318388.10:c.614T>C (NDUFV2) ENSP00000327268.6:p.Ile205Thr
ENST00000400033.1:c.623T>C (NDUFV2) ENSP00000382908.1:p.Ile208Thr
ENST00000465096.5:n.445T>C (NDUFV2)
ENST00000474740.1:n.112T>C (NDUFV2)
XM_017025782.1:c.527T>C (NDUFV2) XP_016881271.1:p.Ile176Thr
XR_002958175.1:n.2908T>C (NDUFV2)
XR_243808.1:n.729T>C (NDUFV2)
XR_243808.3:n.644T>C (NDUFV2)