Canonical Allele Identifier: CA352741668

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026984-C-A
• MyVariant Identifiers: chr3:g.49064417C>A (hg19) ; chr3:g.49026984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026984C>A , CM000665.2:g.49026984C>A	GRCh38
NC_000003.11:g.49064417C>A , CM000665.1:g.49064417C>A	GRCh37
NC_000003.10:g.49039421C>A	NCBI36
NG_012091.1:g.7459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2635G>T	ENSP00000515567.1:p.Glu879Ter
ENST00000703937.1:c.*1696G>T	ENSP00000515568.1:n.*1696G>T
ENST00000326739.9:c.595G>T MANE Select	ENSP00000321584.4:p.Glu199Ter
ENST00000429182.6:c.595G>T	ENSP00000393525.2:p.Glu199Ter
ENST00000442157.2:c.520G>T	ENSP00000403502.2:p.Glu174Ter
ENST00000462980.2:n.1110G>T
ENST00000472328.2:n.661G>T
ENST00000491610.2:n.482G>T
ENST00000676607.1:n.891G>T
ENST00000676627.1:n.1325G>T
ENST00000676708.1:n.1802G>T
ENST00000676864.1:n.1671G>T
ENST00000677010.1:c.631G>T	ENSP00000503089.1:p.Glu211Ter
ENST00000677108.1:n.2428G>T
ENST00000677168.1:n.1067G>T
ENST00000677185.1:n.1085G>T
ENST00000677205.1:n.1306G>T
ENST00000677344.1:n.1796G>T
ENST00000677480.1:c.*272G>T	ENSP00000504378.1:n.*272G>T
ENST00000677519.1:n.1305G>T
ENST00000677593.1:n.1078G>T
ENST00000677740.1:n.2027G>T
ENST00000677991.1:n.1768G>T
ENST00000678001.1:n.1088G>T
ENST00000678085.1:n.1078G>T
ENST00000678177.1:n.2371G>T
ENST00000678603.1:n.1673G>T
ENST00000678724.1:c.520G>T	ENSP00000503874.1:p.Glu174Ter
ENST00000678920.1:n.753G>T
ENST00000679019.1:n.1292G>T
ENST00000679117.1:c.*410G>T	ENSP00000503240.1:n.*410G>T
ENST00000679339.1:n.1363G>T
ENST00000326739.8:c.595G>T	ENSP00000321584.4:p.Glu199Ter
ENST00000429182.5:c.389G>T
ENST00000442157.1:c.520G>T	ENSP00000403502.1:p.Glu174Ter
ENST00000462980.1:n.497G>T
ENST00000491610.1:n.482G>T
NM_000884.2:c.595G>T	NP_000875.2:p.Glu199Ter
XM_006713128.2:c.805G>T	XP_006713191.1:p.Glu269Ter
XM_006713128.3:c.805G>T	XP_006713191.1:p.Glu269Ter
XM_017006349.1:c.730G>T	XP_016861838.1:p.Glu244Ter
XM_017006350.1:c.730G>T	XP_016861839.1:p.Glu244Ter
NM_000884.3:c.595G>T MANE Select	NP_000875.2:p.Glu199Ter