Canonical Allele Identifier: CA367420211
Gene: ZMIZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2540720
ClinVar RCV Id: RCV004313825
gnomAD v4: 7-44766286-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44766286A>G , CM000669.2:g.44766286A>G GRCh38
NC_000007.13:g.44805885A>G , CM000669.1:g.44805885A>G GRCh37
NC_000007.12:g.44772410A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309315.9:c.2365A>G MANE Select ENSP00000311778.4:p.Ser789Gly
ENST00000265346.11:c.2287A>G ENSP00000265346.7:p.Ser763Gly
ENST00000309315.8:c.2365A>G ENSP00000311778.4:p.Ser789Gly
ENST00000413916.5:c.2191A>G ENSP00000409648.1:p.Ser731Gly
ENST00000433667.5:c.2269A>G ENSP00000396601.1:p.Ser757Gly
ENST00000441627.5:c.2365A>G ENSP00000414723.1:p.Ser789Gly
ENST00000463056.5:n.1768A>G
ENST00000463931.1:n.469A>G
ENST00000478045.5:n.2086A>G
ENST00000482322.1:n.543A>G
ENST00000615423.1:c.2374A>G ENSP00000483853.1:p.Ser792Gly
NM_001300959.1:c.2191A>G NP_001287888.1:p.Ser731Gly
NM_031449.3:c.2365A>G NP_113637.3:p.Ser789Gly
NM_174929.2:c.2287A>G NP_777589.2:p.Ser763Gly
XM_005249866.2:c.2392A>G XP_005249923.1:p.Ser798Gly
XM_005249867.3:c.2392A>G XP_005249924.1:p.Ser798Gly
XM_005249868.3:c.2392A>G XP_005249925.1:p.Ser798Gly
XM_005249869.2:c.2365A>G XP_005249926.1:p.Ser789Gly
XM_005249870.2:c.2314A>G XP_005249927.1:p.Ser772Gly
XM_005249871.2:c.2296A>G XP_005249928.1:p.Ser766Gly
XM_005249872.2:c.2287A>G XP_005249929.1:p.Ser763Gly
XM_005249873.2:c.2269A>G XP_005249930.1:p.Ser757Gly
XM_006715787.2:c.2392A>G XP_006715850.1:p.Ser798Gly
XM_011515565.1:c.2392A>G XP_011513867.1:p.Ser798Gly
XM_011515566.1:c.1570A>G XP_011513868.1:p.Ser524Gly
XR_926948.1:n.2539A>G
XR_926949.1:n.2539A>G
XR_926950.1:n.2629A>G
XM_005249867.5:c.2392A>G XP_005249924.1:p.Ser798Gly
XM_005249868.4:c.2392A>G XP_005249925.1:p.Ser798Gly
XM_017012674.1:c.2392A>G XP_016868163.1:p.Ser798Gly
NM_031449.4:c.2365A>G MANE Select NP_113637.3:p.Ser789Gly
NM_001300959.2:c.2191A>G NP_001287888.1:p.Ser731Gly