Canonical Allele Identifier: CA401859981

Gene: NDUFV2 NDUFV2-AS1

Linked Data

• dbSNP Id: rs1472210121
• gnomAD v3: 18-9134267-A-C
• gnomAD v4: 18-9134267-A-C
• COSMIC: COSM4706165
• MyVariant Identifiers: chr18:g.9134265A>C (hg19) ; chr18:g.9134267A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9134267A>C , CM000680.2:g.9134267A>C	GRCh38
NC_000018.9:g.9134265A>C , CM000680.1:g.9134265A>C	GRCh37
NC_000018.8:g.9124265A>C	NCBI36
NG_013355.1:g.36638A>C
NG_047134.1:g.2515A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318388.11:c.738A>C (NDUFV2) MANE Select	ENSP00000327268.6:p.Gln246His
ENST00000318388.10:c.738A>C (NDUFV2)	ENSP00000327268.6:p.Gln246His
ENST00000400033.1:c.747A>C (NDUFV2)	ENSP00000382908.1:p.Gln249His
ENST00000465096.5:n.569A>C (NDUFV2)
ENST00000474740.1:n.236A>C (NDUFV2)
NM_021074.4:c.738A>C (NDUFV2)	NP_066552.2:p.Gln246His
NR_110771.1:n.358-757T>G (NDUFV2-AS1)
NR_110772.1:n.358-757T>G (NDUFV2-AS1)
XR_243808.1:n.853A>C (NDUFV2)
XM_017025782.1:c.651A>C (NDUFV2)	XP_016881271.1:p.Gln217His
XR_002958175.1:n.3032A>C (NDUFV2)
XR_243808.3:n.768A>C (NDUFV2)
NM_021074.5:c.738A>C (NDUFV2) MANE Select	NP_066552.2:p.Gln246His