Canonical Allele Identifier: CA433554478

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1194381242
• gnomAD v2: 3-49064411-G-A
• gnomAD v4: 3-49026978-G-A
• MyVariant Identifiers: chr3:g.49064411G>A (hg19) ; chr3:g.49026978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026978G>A , CM000665.2:g.49026978G>A	GRCh38
NC_000003.11:g.49064411G>A , CM000665.1:g.49064411G>A	GRCh37
NC_000003.10:g.49039415G>A	NCBI36
NG_012091.1:g.7465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2641C>T	ENSP00000515567.1:p.Leu881=
ENST00000703937.1:c.*1702C>T	ENSP00000515568.1:n.*1702C>T
ENST00000326739.9:c.601C>T MANE Select	ENSP00000321584.4:p.Leu201=
ENST00000429182.6:c.601C>T	ENSP00000393525.2:p.Leu201=
ENST00000442157.2:c.526C>T	ENSP00000403502.2:p.Leu176=
ENST00000462980.2:n.1116C>T
ENST00000472328.2:n.667C>T
ENST00000491610.2:n.488C>T
ENST00000676607.1:n.897C>T
ENST00000676627.1:n.1331C>T
ENST00000676708.1:n.1808C>T
ENST00000676864.1:n.1677C>T
ENST00000677010.1:c.637C>T	ENSP00000503089.1:p.Leu213=
ENST00000677108.1:n.2434C>T
ENST00000677168.1:n.1073C>T
ENST00000677185.1:n.1091C>T
ENST00000677205.1:n.1312C>T
ENST00000677344.1:n.1802C>T
ENST00000677480.1:c.*278C>T	ENSP00000504378.1:n.*278C>T
ENST00000677519.1:n.1311C>T
ENST00000677593.1:n.1084C>T
ENST00000677740.1:n.2033C>T
ENST00000677991.1:n.1774C>T
ENST00000678001.1:n.1094C>T
ENST00000678085.1:n.1084C>T
ENST00000678177.1:n.2377C>T
ENST00000678603.1:n.1679C>T
ENST00000678724.1:c.526C>T	ENSP00000503874.1:p.Leu176=
ENST00000678920.1:n.759C>T
ENST00000679019.1:n.1298C>T
ENST00000679117.1:c.*416C>T	ENSP00000503240.1:n.*416C>T
ENST00000679339.1:n.1369C>T
ENST00000326739.8:c.601C>T	ENSP00000321584.4:p.Leu201=
ENST00000429182.5:c.395C>T
ENST00000442157.1:c.526C>T	ENSP00000403502.1:p.Leu176=
ENST00000462980.1:n.503C>T
ENST00000491610.1:n.488C>T
NM_000884.2:c.601C>T	NP_000875.2:p.Leu201=
XM_006713128.2:c.811C>T	XP_006713191.1:p.Leu271=
XM_006713128.3:c.811C>T	XP_006713191.1:p.Leu271=
XM_017006349.1:c.736C>T	XP_016861838.1:p.Leu246=
XM_017006350.1:c.736C>T	XP_016861839.1:p.Leu246=
NM_000884.3:c.601C>T MANE Select	NP_000875.2:p.Leu201=