Canonical Allele Identifier: CA401859934

Gene: NDUFV2 NDUFV2-AS1

Linked Data

• MyVariant Identifiers: chr18:g.9134258G>C (hg19) ; chr18:g.9134260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9134260G>C , CM000680.2:g.9134260G>C	GRCh38
NC_000018.9:g.9134258G>C , CM000680.1:g.9134258G>C	GRCh37
NC_000018.8:g.9124258G>C	NCBI36
NG_013355.1:g.36631G>C
NG_047134.1:g.2508G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318388.11:c.731G>C (NDUFV2) MANE Select	ENSP00000327268.6:p.Gly244Ala
ENST00000318388.10:c.731G>C (NDUFV2)	ENSP00000327268.6:p.Gly244Ala
ENST00000400033.1:c.740G>C (NDUFV2)	ENSP00000382908.1:p.Gly247Ala
ENST00000465096.5:n.562G>C (NDUFV2)
ENST00000474740.1:n.229G>C (NDUFV2)
NM_021074.4:c.731G>C (NDUFV2)	NP_066552.2:p.Gly244Ala
NR_110771.1:n.358-750C>G (NDUFV2-AS1)
NR_110772.1:n.358-750C>G (NDUFV2-AS1)
XR_243808.1:n.846G>C (NDUFV2)
XM_017025782.1:c.644G>C (NDUFV2)	XP_016881271.1:p.Gly215Ala
XR_002958175.1:n.3025G>C (NDUFV2)
XR_243808.3:n.761G>C (NDUFV2)
NM_021074.5:c.731G>C (NDUFV2) MANE Select	NP_066552.2:p.Gly244Ala