Canonical Allele Identifier: CA7953956

Gene: UQCRC2 PDZD9

Linked Data

• ClinVar Variation Id: 507942
• ClinVar RCV Id: RCV000613641
• dbSNP Id: rs766327949
• ExAC: 16:21987576 T / C
• gnomAD v2: 16-21987576-T-C
• gnomAD v4: 16-21976255-T-C
• MyVariant Identifiers: chr16:g.21987576T>C (hg19) ; chr16:g.21976255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21976255T>C , CM000678.2:g.21976255T>C	GRCh38
NC_000016.9:g.21987576T>C , CM000678.1:g.21987576T>C	GRCh37
NC_000016.8:g.21895077T>C	NCBI36
NG_042228.1:g.28192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268379.9:c.1124+12T>C (UQCRC2) MANE Select	ENSP00000268379.4:n.1124+12T>C
ENST00000268379.8:c.1124+12T>C (UQCRC2)	ENSP00000268379.4:n.1124+12T>C
ENST00000561553.5:c.1124+12T>C (UQCRC2)	ENSP00000456232.1:n.1124+12T>C
ENST00000563711.5:n.1316T>C (UQCRC2)
ENST00000563898.5:c.966+4133T>C (UQCRC2)	ENSP00000456738.1:n.966+4133T>C
NM_003366.2:c.1124+12T>C (UQCRC2)	NP_003357.2:n.1124+12T>C
NM_003366.3:c.1124+12T>C (UQCRC2)	NP_003357.2:n.1124+12T>C
XM_011545785.1:c.786+8021A>G (PDZD9)	XP_011544087.1:n.786+8021A>G
XM_011545785.3:c.786+8021A>G (PDZD9)	XP_011544087.1:n.786+8021A>G
XM_017023109.1:c.606+8021A>G (PDZD9)	XP_016878598.1:n.606+8021A>G
XM_017023110.1:c.600+8021A>G (PDZD9)	XP_016878599.1:n.600+8021A>G
NM_003366.4:c.1124+12T>C (UQCRC2) MANE Select	NP_003357.2:n.1124+12T>C