Canonical Allele Identifier: CA210674

Gene: ZNF592

Linked Data

• ClinVar Variation Id: 4
• ClinVar RCV Id: RCV000000014
• dbSNP Id: rs150829393
• ExAC: 15:85342440 G / A
• gnomAD v2: 15-85342440-G-A
• gnomAD v3: 15-84799209-G-A
• gnomAD v4: 15-84799209-G-A
• MyVariant Identifiers: chr15:g.85342440G>A (hg19) ; chr15:g.84799209G>A (hg38)
• PubMed: PMID:12030328 ; PMID:20531441 ; PMID:26123727

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84799209G>A , CM000677.2:g.84799209G>A	GRCh38
NC_000015.9:g.85342440G>A , CM000677.1:g.85342440G>A	GRCh37
NC_000015.8:g.83143444G>A	NCBI36
NG_028094.1:g.55623G>A
NG_028094.2:g.55623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560079.7:c.3136G>A MANE Select	ENSP00000452877.2:p.Gly1046Arg
ENST00000299927.4:c.3136G>A	ENSP00000299927.3:p.Gly1046Arg
ENST00000559607.1:c.*548G>A	ENSP00000453491.1:n.*548G>A
ENST00000560079.6:c.3136G>A	ENSP00000452877.2:p.Gly1046Arg
NM_014630.2:c.3136G>A	NP_055445.2:p.Gly1046Arg
XM_005254996.2:c.3136G>A	XP_005255053.1:p.Gly1046Arg
XM_011522246.1:c.3136G>A	XP_011520548.1:p.Gly1046Arg
XM_011522247.1:c.3136G>A	XP_011520549.1:p.Gly1046Arg
XM_011522248.1:c.3136G>A	XP_011520550.1:p.Gly1046Arg
XR_931951.1:n.3524G>A
XM_005254996.3:c.3136G>A	XP_005255053.1:p.Gly1046Arg
XM_011522246.2:c.3136G>A	XP_011520548.1:p.Gly1046Arg
XM_011522247.2:c.3136G>A	XP_011520549.1:p.Gly1046Arg
XM_011522248.2:c.3136G>A	XP_011520550.1:p.Gly1046Arg
XM_017022734.1:c.3136G>A	XP_016878223.1:p.Gly1046Arg
XR_931951.2:n.3529G>A
NM_014630.3:c.3136G>A MANE Select	NP_055445.2:p.Gly1046Arg