Canonical Allele Identifier: CA367420282

Gene: ZMIZ2

Linked Data

• ClinVar Variation Id: 2292125
• ClinVar RCV Id: RCV004142194
• MyVariant Identifiers: chr7:g.44805913C>A (hg19) ; chr7:g.44766314C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44766314C>A , CM000669.2:g.44766314C>A	GRCh38
NC_000007.13:g.44805913C>A , CM000669.1:g.44805913C>A	GRCh37
NC_000007.12:g.44772438C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309315.9:c.2393C>A MANE Select	ENSP00000311778.4:p.Thr798Asn
ENST00000265346.11:c.2315C>A	ENSP00000265346.7:p.Thr772Asn
ENST00000309315.8:c.2393C>A	ENSP00000311778.4:p.Thr798Asn
ENST00000413916.5:c.2219C>A	ENSP00000409648.1:p.Thr740Asn
ENST00000433667.5:c.2297C>A	ENSP00000396601.1:p.Thr766Asn
ENST00000441627.5:c.2393C>A	ENSP00000414723.1:p.Thr798Asn
ENST00000463056.5:n.1796C>A
ENST00000463931.1:n.497C>A
ENST00000478045.5:n.2114C>A
ENST00000482322.1:n.571C>A
ENST00000615423.1:c.2402C>A	ENSP00000483853.1:p.Thr801Asn
NM_001300959.1:c.2219C>A	NP_001287888.1:p.Thr740Asn
NM_031449.3:c.2393C>A	NP_113637.3:p.Thr798Asn
NM_174929.2:c.2315C>A	NP_777589.2:p.Thr772Asn
XM_005249866.2:c.2420C>A	XP_005249923.1:p.Thr807Asn
XM_005249867.3:c.2420C>A	XP_005249924.1:p.Thr807Asn
XM_005249868.3:c.2420C>A	XP_005249925.1:p.Thr807Asn
XM_005249869.2:c.2393C>A	XP_005249926.1:p.Thr798Asn
XM_005249870.2:c.2342C>A	XP_005249927.1:p.Thr781Asn
XM_005249871.2:c.2324C>A	XP_005249928.1:p.Thr775Asn
XM_005249872.2:c.2315C>A	XP_005249929.1:p.Thr772Asn
XM_005249873.2:c.2297C>A	XP_005249930.1:p.Thr766Asn
XM_006715787.2:c.2420C>A	XP_006715850.1:p.Thr807Asn
XM_011515565.1:c.2420C>A	XP_011513867.1:p.Thr807Asn
XM_011515566.1:c.1598C>A	XP_011513868.1:p.Thr533Asn
XR_926948.1:n.2567C>A
XR_926949.1:n.2567C>A
XR_926950.1:n.2657C>A
XM_005249867.5:c.2420C>A	XP_005249924.1:p.Thr807Asn
XM_005249868.4:c.2420C>A	XP_005249925.1:p.Thr807Asn
XM_017012674.1:c.2420C>A	XP_016868163.1:p.Thr807Asn
NM_031449.4:c.2393C>A MANE Select	NP_113637.3:p.Thr798Asn
NM_001300959.2:c.2219C>A	NP_001287888.1:p.Thr740Asn