Canonical Allele Identifier: CA74018771

Gene: IMPDH2

Linked Data

• dbSNP Id: rs185852634
• gnomAD v3: 3-49026803-G-A
• gnomAD v4: 3-49026803-G-A
• MyVariant Identifiers: chr3:g.49064236G>A (hg19) ; chr3:g.49026803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026803G>A , CM000665.2:g.49026803G>A	GRCh38
NC_000003.11:g.49064236G>A , CM000665.1:g.49064236G>A	GRCh37
NC_000003.10:g.49039240G>A	NCBI36
NG_012091.1:g.7640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2743C>T	ENSP00000515567.1:p.Leu915=
ENST00000703937.1:c.*1804C>T	ENSP00000515568.1:n.*1804C>T
ENST00000326739.9:c.703C>T MANE Select	ENSP00000321584.4:p.Leu235=
ENST00000429182.6:c.703C>T	ENSP00000393525.2:p.Leu235=
ENST00000442157.2:c.628C>T	ENSP00000403502.2:p.Leu210=
ENST00000462980.2:n.1218C>T
ENST00000472328.2:n.769C>T
ENST00000491610.2:n.663C>T
ENST00000676607.1:n.999C>T
ENST00000676627.1:n.1433C>T
ENST00000676708.1:n.1983C>T
ENST00000676864.1:n.1852C>T
ENST00000677010.1:c.739C>T	ENSP00000503089.1:p.Leu247=
ENST00000677108.1:n.2609C>T
ENST00000677168.1:n.1175C>T
ENST00000677185.1:n.1266C>T
ENST00000677205.1:n.1487C>T
ENST00000677344.1:n.1977C>T
ENST00000677480.1:c.*380C>T	ENSP00000504378.1:n.*380C>T
ENST00000677519.1:n.1413C>T
ENST00000677593.1:n.1259C>T
ENST00000677740.1:n.2208C>T
ENST00000677991.1:n.1876C>T
ENST00000678001.1:n.1196C>T
ENST00000678085.1:n.1259C>T
ENST00000678177.1:n.2552C>T
ENST00000678603.1:n.1781C>T
ENST00000678724.1:c.628C>T	ENSP00000503874.1:p.Leu210=
ENST00000678920.1:n.861C>T
ENST00000679019.1:n.1473C>T
ENST00000679117.1:c.*518C>T	ENSP00000503240.1:n.*518C>T
ENST00000679339.1:n.1544C>T
ENST00000326739.8:c.703C>T	ENSP00000321584.4:p.Leu235=
ENST00000429182.5:c.497C>T
ENST00000442157.1:c.628C>T	ENSP00000403502.1:p.Leu210=
ENST00000462980.1:n.605C>T
ENST00000491610.1:n.663C>T
NM_000884.2:c.703C>T	NP_000875.2:p.Leu235=
XM_006713128.2:c.913C>T	XP_006713191.1:p.Leu305=
XM_006713128.3:c.913C>T	XP_006713191.1:p.Leu305=
XM_017006349.1:c.838C>T	XP_016861838.1:p.Leu280=
XM_017006350.1:c.838C>T	XP_016861839.1:p.Leu280=
NM_000884.3:c.703C>T MANE Select	NP_000875.2:p.Leu235=