Canonical Allele Identifier: CA352740438

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1351155503
• gnomAD v2: 3-49064220-G-A
• gnomAD v4: 3-49026787-G-A
• MyVariant Identifiers: chr3:g.49064220G>A (hg19) ; chr3:g.49026787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026787G>A , CM000665.2:g.49026787G>A	GRCh38
NC_000003.11:g.49064220G>A , CM000665.1:g.49064220G>A	GRCh37
NC_000003.10:g.49039224G>A	NCBI36
NG_012091.1:g.7656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2759C>T	ENSP00000515567.1:p.Ala920Val
ENST00000703937.1:c.*1820C>T	ENSP00000515568.1:n.*1820C>T
ENST00000326739.9:c.719C>T MANE Select	ENSP00000321584.4:p.Ala240Val
ENST00000429182.6:c.719C>T	ENSP00000393525.2:p.Ala240Val
ENST00000442157.2:c.644C>T	ENSP00000403502.2:p.Ala215Val
ENST00000462980.2:n.1234C>T
ENST00000472328.2:n.785C>T
ENST00000491610.2:n.679C>T
ENST00000676607.1:n.1015C>T
ENST00000676627.1:n.1449C>T
ENST00000676708.1:n.1999C>T
ENST00000676864.1:n.1868C>T
ENST00000677010.1:c.755C>T	ENSP00000503089.1:p.Ala252Val
ENST00000677108.1:n.2625C>T
ENST00000677168.1:n.1191C>T
ENST00000677185.1:n.1282C>T
ENST00000677205.1:n.1503C>T
ENST00000677344.1:n.1993C>T
ENST00000677480.1:c.*396C>T	ENSP00000504378.1:n.*396C>T
ENST00000677519.1:n.1429C>T
ENST00000677593.1:n.1275C>T
ENST00000677740.1:n.2224C>T
ENST00000677991.1:n.1892C>T
ENST00000678001.1:n.1212C>T
ENST00000678085.1:n.1275C>T
ENST00000678177.1:n.2568C>T
ENST00000678603.1:n.1797C>T
ENST00000678724.1:c.644C>T	ENSP00000503874.1:p.Ala215Val
ENST00000678920.1:n.877C>T
ENST00000679019.1:n.1489C>T
ENST00000679117.1:c.*534C>T	ENSP00000503240.1:n.*534C>T
ENST00000679339.1:n.1560C>T
ENST00000326739.8:c.719C>T	ENSP00000321584.4:p.Ala240Val
ENST00000429182.5:c.513C>T
ENST00000442157.1:c.644C>T	ENSP00000403502.1:p.Ala215Val
ENST00000462980.1:n.621C>T
ENST00000491610.1:n.679C>T
NM_000884.2:c.719C>T	NP_000875.2:p.Ala240Val
XM_006713128.2:c.929C>T	XP_006713191.1:p.Ala310Val
XM_006713128.3:c.929C>T	XP_006713191.1:p.Ala310Val
XM_017006349.1:c.854C>T	XP_016861838.1:p.Ala285Val
XM_017006350.1:c.854C>T	XP_016861839.1:p.Ala285Val
NM_000884.3:c.719C>T MANE Select	NP_000875.2:p.Ala240Val