Canonical Allele Identifier: CA401859988

Gene: NDUFV2 NDUFV2-AS1

Linked Data

• MyVariant Identifiers: chr18:g.9134266G>A (hg19) ; chr18:g.9134268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9134268G>A , CM000680.2:g.9134268G>A	GRCh38
NC_000018.9:g.9134266G>A , CM000680.1:g.9134266G>A	GRCh37
NC_000018.8:g.9124266G>A	NCBI36
NG_013355.1:g.36639G>A
NG_047134.1:g.2516G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318388.11:c.739G>A (NDUFV2) MANE Select	ENSP00000327268.6:p.Ala247Thr
ENST00000318388.10:c.739G>A (NDUFV2)	ENSP00000327268.6:p.Ala247Thr
ENST00000400033.1:c.748G>A (NDUFV2)	ENSP00000382908.1:p.Ala250Thr
ENST00000465096.5:n.570G>A (NDUFV2)
ENST00000474740.1:n.237G>A (NDUFV2)
NM_021074.4:c.739G>A (NDUFV2)	NP_066552.2:p.Ala247Thr
NR_110771.1:n.358-758C>T (NDUFV2-AS1)
NR_110772.1:n.358-758C>T (NDUFV2-AS1)
XR_243808.1:n.854G>A (NDUFV2)
XM_017025782.1:c.652G>A (NDUFV2)	XP_016881271.1:p.Ala218Thr
XR_002958175.1:n.3033G>A (NDUFV2)
XR_243808.3:n.769G>A (NDUFV2)
NM_021074.5:c.739G>A (NDUFV2) MANE Select	NP_066552.2:p.Ala247Thr