Canonical Allele Identifier: CA367421100

Gene: ZMIZ2

Linked Data

• ClinVar Variation Id: 2554129
• ClinVar RCV Id: RCV004326655
• MyVariant Identifiers: chr7:g.44806185G>T (hg19) ; chr7:g.44766586G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44766586G>T , CM000669.2:g.44766586G>T	GRCh38
NC_000007.13:g.44806185G>T , CM000669.1:g.44806185G>T	GRCh37
NC_000007.12:g.44772710G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309315.9:c.2578G>T MANE Select	ENSP00000311778.4:p.Ala860Ser
ENST00000265346.11:c.2500G>T	ENSP00000265346.7:p.Ala834Ser
ENST00000309315.8:c.2578G>T	ENSP00000311778.4:p.Ala860Ser
ENST00000413916.5:c.2404G>T	ENSP00000409648.1:p.Ala802Ser
ENST00000433667.5:c.2482G>T	ENSP00000396601.1:p.Ala828Ser
ENST00000441627.5:c.2578G>T	ENSP00000414723.1:p.Ala860Ser
ENST00000463056.5:n.1981G>T
ENST00000463931.1:n.682G>T
ENST00000478045.5:n.2299G>T
ENST00000615423.1:c.2587G>T	ENSP00000483853.1:p.Ala863Ser
NM_001300959.1:c.2404G>T	NP_001287888.1:p.Ala802Ser
NM_031449.3:c.2578G>T	NP_113637.3:p.Ala860Ser
NM_174929.2:c.2500G>T	NP_777589.2:p.Ala834Ser
XM_005249866.2:c.2605G>T	XP_005249923.1:p.Ala869Ser
XM_005249867.3:c.2605G>T	XP_005249924.1:p.Ala869Ser
XM_005249868.3:c.2605G>T	XP_005249925.1:p.Ala869Ser
XM_005249869.2:c.2578G>T	XP_005249926.1:p.Ala860Ser
XM_005249870.2:c.2527G>T	XP_005249927.1:p.Ala843Ser
XM_005249871.2:c.2509G>T	XP_005249928.1:p.Ala837Ser
XM_005249872.2:c.2500G>T	XP_005249929.1:p.Ala834Ser
XM_005249873.2:c.2482G>T	XP_005249930.1:p.Ala828Ser
XM_006715787.2:c.2605G>T	XP_006715850.1:p.Ala869Ser
XM_011515565.1:c.2605G>T	XP_011513867.1:p.Ala869Ser
XM_011515566.1:c.1783G>T	XP_011513868.1:p.Ala595Ser
XR_926948.1:n.2752G>T
XR_926949.1:n.2752G>T
XR_926950.1:n.2842G>T
XM_005249867.5:c.2605G>T	XP_005249924.1:p.Ala869Ser
XM_005249868.4:c.2605G>T	XP_005249925.1:p.Ala869Ser
XM_017012674.1:c.2605G>T	XP_016868163.1:p.Ala869Ser
NM_031449.4:c.2578G>T MANE Select	NP_113637.3:p.Ala860Ser
NM_001300959.2:c.2404G>T	NP_001287888.1:p.Ala802Ser