Canonical Allele Identifier: CA395254208

Gene: UQCRC2 PDZD9

Linked Data

• gnomAD v4: 16-21973975-A-G
• MyVariant Identifiers: chr16:g.21985296A>G (hg19) ; chr16:g.21973975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21973975A>G , CM000678.2:g.21973975A>G	GRCh38
NC_000016.9:g.21985296A>G , CM000678.1:g.21985296A>G	GRCh37
NC_000016.8:g.21892797A>G	NCBI36
NG_042228.1:g.25912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268379.9:c.1046A>G (UQCRC2) MANE Select	ENSP00000268379.4:p.Asp349Gly
ENST00000268379.8:c.1046A>G (UQCRC2)	ENSP00000268379.4:p.Asp349Gly
ENST00000561553.5:c.1046A>G (UQCRC2)	ENSP00000456232.1:p.Asp349Gly
ENST00000563711.5:n.1226A>G (UQCRC2)
ENST00000563898.5:c.966+1853A>G (UQCRC2)	ENSP00000456738.1:n.966+1853A>G
NM_003366.2:c.1046A>G (UQCRC2)	NP_003357.2:p.Asp349Gly
NM_003366.3:c.1046A>G (UQCRC2)	NP_003357.2:p.Asp349Gly
XM_011545785.1:c.786+10301T>C (PDZD9)	XP_011544087.1:n.786+10301T>C
XM_011545785.3:c.786+10301T>C (PDZD9)	XP_011544087.1:n.786+10301T>C
XM_017023109.1:c.606+10301T>C (PDZD9)	XP_016878598.1:n.606+10301T>C
XM_017023110.1:c.600+10301T>C (PDZD9)	XP_016878599.1:n.600+10301T>C
NM_003366.4:c.1046A>G (UQCRC2) MANE Select	NP_003357.2:p.Asp349Gly