Canonical Allele Identifier: CA621540419

Gene: UQCRC2 PDZD9

Linked Data

• dbSNP Id: rs1368701520
• gnomAD v2: 16-21985302-GT-G
• gnomAD v4: 16-21973981-GT-G
• MyVariant Identifiers: chr16:g.21985303del (hg19) ; chr16:g.21973982del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21973983del , CM000678.2:g.21973983del	GRCh38
NC_000016.9:g.21985304del , CM000678.1:g.21985304del	GRCh37
NC_000016.8:g.21892805del	NCBI36
NG_042228.1:g.25920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268379.9:c.1047+7del (UQCRC2) MANE Select	ENSP00000268379.4:n.1047+7del
ENST00000268379.8:c.1047+7del (UQCRC2)	ENSP00000268379.4:n.1047+7del
ENST00000561553.5:c.1047+7del (UQCRC2)	ENSP00000456232.1:n.1047+7del
ENST00000563711.5:n.1227+7del (UQCRC2)
ENST00000563898.5:c.966+1861del (UQCRC2)	ENSP00000456738.1:n.966+1861del
NM_003366.2:c.1047+7del (UQCRC2)	NP_003357.2:n.1047+7del
NM_003366.3:c.1047+7del (UQCRC2)	NP_003357.2:n.1047+7del
XM_011545785.1:c.786+10294del (PDZD9)	XP_011544087.1:n.786+10294del
XM_011545785.3:c.786+10294del (PDZD9)	XP_011544087.1:n.786+10294del
XM_017023109.1:c.606+10294del (PDZD9)	XP_016878598.1:n.606+10294del
XM_017023110.1:c.600+10294del (PDZD9)	XP_016878599.1:n.600+10294del
NM_003366.4:c.1047+7del (UQCRC2) MANE Select	NP_003357.2:n.1047+7del