Canonical Allele Identifier: CA7953849

Gene: UQCRC2 PDZD9

Linked Data

• ClinVar Variation Id: 380590
• ClinVar RCV Id: RCV000432664 ; RCV000676824
• dbSNP Id: rs11863893
• ExAC: 16:21982936 G / A
• gnomAD v2: 16-21982936-G-A
• gnomAD v3: 16-21971615-G-A
• gnomAD v4: 16-21971615-G-A
• MyVariant Identifiers: chr16:g.21982936G>A (hg19) ; chr16:g.21971615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21971615G>A , CM000678.2:g.21971615G>A	GRCh38
NC_000016.9:g.21982936G>A , CM000678.1:g.21982936G>A	GRCh37
NC_000016.8:g.21890437G>A	NCBI36
NG_042228.1:g.23552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268379.9:c.761G>A (UQCRC2) MANE Select	ENSP00000268379.4:p.Arg254His
ENST00000268379.8:c.761G>A (UQCRC2)	ENSP00000268379.4:p.Arg254His
ENST00000561553.5:c.761G>A (UQCRC2)	ENSP00000456232.1:p.Arg254His
ENST00000563711.5:n.941G>A (UQCRC2)
ENST00000563898.5:c.761G>A (UQCRC2)	ENSP00000456738.1:p.Arg254His
ENST00000567810.1:n.315G>A (UQCRC2)
NM_003366.2:c.761G>A (UQCRC2)	NP_003357.2:p.Arg254His
NM_003366.3:c.761G>A (UQCRC2)	NP_003357.2:p.Arg254His
XM_011545785.1:c.786+12661C>T (PDZD9)	XP_011544087.1:n.786+12661C>T
XM_011545785.3:c.786+12661C>T (PDZD9)	XP_011544087.1:n.786+12661C>T
XM_017023109.1:c.606+12661C>T (PDZD9)	XP_016878598.1:n.606+12661C>T
XM_017023110.1:c.600+12661C>T (PDZD9)	XP_016878599.1:n.600+12661C>T
NM_003366.4:c.761G>A (UQCRC2) MANE Select	NP_003357.2:p.Arg254His