Canonical Allele Identifier: CA401859878

Gene: NDUFV2 NDUFV2-AS1

Linked Data

• MyVariant Identifiers: chr18:g.9134254T>G (hg19) ; chr18:g.9134256T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9134256T>G , CM000680.2:g.9134256T>G	GRCh38
NC_000018.9:g.9134254T>G , CM000680.1:g.9134254T>G	GRCh37
NC_000018.8:g.9124254T>G	NCBI36
NG_013355.1:g.36627T>G
NG_047134.1:g.2504T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318388.11:c.727T>G (NDUFV2) MANE Select	ENSP00000327268.6:p.Phe243Val
ENST00000318388.10:c.727T>G (NDUFV2)	ENSP00000327268.6:p.Phe243Val
ENST00000400033.1:c.736T>G (NDUFV2)	ENSP00000382908.1:p.Phe246Val
ENST00000465096.5:n.558T>G (NDUFV2)
ENST00000474740.1:n.225T>G (NDUFV2)
NM_021074.4:c.727T>G (NDUFV2)	NP_066552.2:p.Phe243Val
NR_110771.1:n.358-746A>C (NDUFV2-AS1)
NR_110772.1:n.358-746A>C (NDUFV2-AS1)
XR_243808.1:n.842T>G (NDUFV2)
XM_017025782.1:c.640T>G (NDUFV2)	XP_016881271.1:p.Phe214Val
XR_002958175.1:n.3021T>G (NDUFV2)
XR_243808.3:n.757T>G (NDUFV2)
NM_021074.5:c.727T>G (NDUFV2) MANE Select	NP_066552.2:p.Phe243Val