Canonical Allele Identifier: CA325066

Gene: NDUFV2 NDUFV2-AS1

Linked Data

• ClinVar Variation Id: 214867
• ClinVar RCV Id: RCV000200485 ; RCV003147398
• dbSNP Id: rs377456305
• ExAC: 18:9124955 A / G
• gnomAD v2: 18-9124955-A-G
• gnomAD v3: 18-9124957-A-G
• gnomAD v4: 18-9124957-A-G
• MyVariant Identifiers: chr18:g.9124955A>G (hg19) ; chr18:g.9124957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9124957A>G , CM000680.2:g.9124957A>G	GRCh38
NC_000018.9:g.9124955A>G , CM000680.1:g.9124955A>G	GRCh37
NC_000018.8:g.9114955A>G	NCBI36
NG_013355.1:g.27328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318388.11:c.553A>G (NDUFV2) MANE Select	ENSP00000327268.6:p.Met185Val
ENST00000318388.10:c.553A>G (NDUFV2)	ENSP00000327268.6:p.Met185Val
ENST00000400033.1:c.562A>G (NDUFV2)	ENSP00000382908.1:p.Met188Val
ENST00000465096.5:n.371A>G (NDUFV2)
NM_021074.4:c.553A>G (NDUFV2)	NP_066552.2:p.Met185Val
NR_110771.1:n.654-3501T>C (NDUFV2-AS1)
NR_110772.1:n.478-3501T>C (NDUFV2-AS1)
XR_243808.1:n.655A>G (NDUFV2)
XM_017025782.1:c.466A>G (NDUFV2)	XP_016881271.1:p.Met156Val
XR_002958175.1:n.2847A>G (NDUFV2)
XR_243808.3:n.570A>G (NDUFV2)
NM_021074.5:c.553A>G (NDUFV2) MANE Select	NP_066552.2:p.Met185Val