Canonical Allele Identifier: CA502839854
Gene: NDUFV2 HGNC NCBI
NDUFV2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.9134268A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.9134270A>G , CM000680.2:g.9134270A>G GRCh38
NC_000018.9:g.9134268A>G , CM000680.1:g.9134268A>G GRCh37
NC_000018.8:g.9124268A>G NCBI36
NG_013355.1:g.36641A>G
NG_047134.1:g.2518A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318388.11:c.741A>G (NDUFV2) MANE Select ENSP00000327268.6:p.Ala247=
ENST00000318388.10:c.741A>G (NDUFV2) ENSP00000327268.6:p.Ala247=
ENST00000400033.1:c.750A>G (NDUFV2) ENSP00000382908.1:p.Ala250=
ENST00000465096.5:n.572A>G (NDUFV2)
ENST00000474740.1:n.239A>G (NDUFV2)
NM_021074.4:c.741A>G (NDUFV2) NP_066552.2:p.Ala247=
NR_110771.1:n.358-760T>C (NDUFV2-AS1)
NR_110772.1:n.358-760T>C (NDUFV2-AS1)
XR_243808.1:n.856A>G (NDUFV2)
XM_017025782.1:c.654A>G (NDUFV2) XP_016881271.1:p.Ala218=
XR_002958175.1:n.3035A>G (NDUFV2)
XR_243808.3:n.771A>G (NDUFV2)
NM_021074.5:c.741A>G (NDUFV2) MANE Select NP_066552.2:p.Ala247=