Canonical Allele Identifier: CA324079

Gene: NDUFV2 NDUFV2-AS1

Linked Data

• ClinVar Variation Id: 214864
• ClinVar RCV Id: RCV000199535 ; RCV000882107 ; RCV003758722
• dbSNP Id: rs759348789
• ExAC: 18:9122504 AT / A
• gnomAD v2: 18-9122504-AT-A
• gnomAD v3: 18-9122506-AT-A
• gnomAD v4: 18-9122506-AT-A
• MyVariant Identifiers: chr18:g.9122508del (hg19) ; chr18:g.9122505del (hg19) ; chr18:g.9122510del (hg38) ; chr18:g.9122508del (hg38) ; chr18:g.9122507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9122510del , CM000680.2:g.9122510del	GRCh38
NC_000018.9:g.9122508del , CM000680.1:g.9122508del	GRCh37
NC_000018.8:g.9112508del	NCBI36
NG_013355.1:g.24881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318388.11:c.301-3del (NDUFV2) MANE Select	ENSP00000327268.6:n.301-3del
ENST00000318388.10:c.301-3del (NDUFV2)	ENSP00000327268.6:n.301-3del
ENST00000400033.1:c.310-3del (NDUFV2)	ENSP00000382908.1:n.310-3del
ENST00000465096.5:n.119-3del (NDUFV2)
NM_021074.4:c.301-3del (NDUFV2)	NP_066552.2:n.301-3del
NR_110771.1:n.654-1051del (NDUFV2-AS1)
NR_110772.1:n.478-1051del (NDUFV2-AS1)
XR_243808.1:n.403-3del (NDUFV2)
XM_017025782.1:c.214-3del (NDUFV2)	XP_016881271.1:n.214-3del
XR_002958175.1:n.403-3del (NDUFV2)
XR_243808.3:n.318-3del (NDUFV2)
NM_021074.5:c.301-3del (NDUFV2) MANE Select	NP_066552.2:n.301-3del