Canonical Allele Identifier: CA254625

Gene: NDUFV2

Linked Data

• ClinVar Variation Id: 9054
• ClinVar RCV Id: RCV000009621 ; RCV000117718 ; RCV000312272 ; RCV000676827 ; RCV001000212
• dbSNP Id: rs906807
• ExAC: 18:9117867 T / C
• gnomAD v2: 18-9117867-T-C
• gnomAD v3: 18-9117869-T-C
• gnomAD v4: 18-9117869-T-C
• MyVariant Identifiers: chr18:g.9117867T>C (hg19) ; chr18:g.9117869T>C (hg38)
• PubMed: PMID:9570948

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9117869T>C , CM000680.2:g.9117869T>C	GRCh38
NC_000018.9:g.9117867T>C , CM000680.1:g.9117867T>C	GRCh37
NC_000018.8:g.9107867T>C	NCBI36
NG_013355.1:g.20240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318388.11:c.86T>C MANE Select	ENSP00000327268.6:p.Val29Ala
ENST00000318388.10:c.86T>C	ENSP00000327268.6:p.Val29Ala
ENST00000400033.1:c.95T>C	ENSP00000382908.1:p.Val32Ala
ENST00000474350.5:n.483T>C
ENST00000483511.1:n.145T>C
ENST00000577703.1:c.*602T>C	ENSP00000461911.1:n.*602T>C
ENST00000583375.5:n.177T>C
NM_021074.4:c.86T>C	NP_066552.2:p.Val29Ala
XR_243808.1:n.188T>C
XM_017025782.1:c.-2T>C	XP_016881271.1:n.-2T>C
XR_002958175.1:n.188T>C
XR_243808.3:n.103T>C
NM_021074.5:c.86T>C MANE Select	NP_066552.2:p.Val29Ala