Canonical Allele Identifier: CA8887320

Gene: NDUFV2 NDUFV2-AS1

Linked Data

• dbSNP Id: rs148032289
• ExAC: 18:9134263 C / T
• gnomAD v2: 18-9134263-C-T
• gnomAD v4: 18-9134265-C-T
• MyVariant Identifiers: chr18:g.9134263C>T (hg19) ; chr18:g.9134265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9134265C>T , CM000680.2:g.9134265C>T	GRCh38
NC_000018.9:g.9134263C>T , CM000680.1:g.9134263C>T	GRCh37
NC_000018.8:g.9124263C>T	NCBI36
NG_013355.1:g.36636C>T
NG_047134.1:g.2513C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318388.11:c.736C>T (NDUFV2) MANE Select	ENSP00000327268.6:p.Gln246Ter
ENST00000318388.10:c.736C>T (NDUFV2)	ENSP00000327268.6:p.Gln246Ter
ENST00000400033.1:c.745C>T (NDUFV2)	ENSP00000382908.1:p.Gln249Ter
ENST00000465096.5:n.567C>T (NDUFV2)
ENST00000474740.1:n.234C>T (NDUFV2)
NM_021074.4:c.736C>T (NDUFV2)	NP_066552.2:p.Gln246Ter
NR_110771.1:n.358-755G>A (NDUFV2-AS1)
NR_110772.1:n.358-755G>A (NDUFV2-AS1)
XR_243808.1:n.851C>T (NDUFV2)
XM_017025782.1:c.649C>T (NDUFV2)	XP_016881271.1:p.Gln217Ter
XR_002958175.1:n.3030C>T (NDUFV2)
XR_243808.3:n.766C>T (NDUFV2)
NM_021074.5:c.736C>T (NDUFV2) MANE Select	NP_066552.2:p.Gln246Ter