Canonical Allele Identifier: CA2390609

Gene: IMPDH2

Linked Data

• dbSNP Id: rs145125396
• ExAC: 3:49064150 G / A
• gnomAD v2: 3-49064150-G-A
• gnomAD v3: 3-49026717-G-A
• gnomAD v4: 3-49026717-G-A
• COSMIC: COSM3696139
• MyVariant Identifiers: chr3:g.49064150G>A (hg19) ; chr3:g.49026717G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026717G>A , CM000665.2:g.49026717G>A	GRCh38
NC_000003.11:g.49064150G>A , CM000665.1:g.49064150G>A	GRCh37
NC_000003.10:g.49039154G>A	NCBI36
NG_012091.1:g.7726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2829C>T	ENSP00000515567.1:p.Leu943=
ENST00000703937.1:c.*1890C>T	ENSP00000515568.1:n.*1890C>T
ENST00000326739.9:c.789C>T MANE Select	ENSP00000321584.4:p.Leu263=
ENST00000429182.6:c.789C>T	ENSP00000393525.2:p.Leu263=
ENST00000442157.2:c.714C>T	ENSP00000403502.2:p.Leu238=
ENST00000462980.2:n.1304C>T
ENST00000472328.2:n.855C>T
ENST00000491610.2:n.749C>T
ENST00000676607.1:n.1085C>T
ENST00000676627.1:n.1519C>T
ENST00000676708.1:n.2069C>T
ENST00000676864.1:n.1938C>T
ENST00000677010.1:c.825C>T	ENSP00000503089.1:p.Leu275=
ENST00000677108.1:n.2695C>T
ENST00000677168.1:n.1261C>T
ENST00000677185.1:n.1352C>T
ENST00000677205.1:n.1573C>T
ENST00000677344.1:n.2063C>T
ENST00000677480.1:c.*466C>T	ENSP00000504378.1:n.*466C>T
ENST00000677519.1:n.1499C>T
ENST00000677593.1:n.1345C>T
ENST00000677740.1:n.2294C>T
ENST00000677991.1:n.1962C>T
ENST00000678001.1:n.1282C>T
ENST00000678085.1:n.1345C>T
ENST00000678177.1:n.2638C>T
ENST00000678603.1:n.1867C>T
ENST00000678724.1:c.714C>T	ENSP00000503874.1:p.Leu238=
ENST00000678920.1:n.947C>T
ENST00000679019.1:n.1559C>T
ENST00000679117.1:c.*604C>T	ENSP00000503240.1:n.*604C>T
ENST00000679339.1:n.1630C>T
ENST00000326739.8:c.789C>T	ENSP00000321584.4:p.Leu263=
ENST00000429182.5:c.583C>T
ENST00000442157.1:c.714C>T	ENSP00000403502.1:p.Leu238=
ENST00000462980.1:n.691C>T
ENST00000491610.1:n.749C>T
NM_000884.2:c.789C>T	NP_000875.2:p.Leu263=
XM_006713128.2:c.999C>T	XP_006713191.1:p.Leu333=
XM_006713128.3:c.999C>T	XP_006713191.1:p.Leu333=
XM_017006349.1:c.924C>T	XP_016861838.1:p.Leu308=
XM_017006350.1:c.924C>T	XP_016861839.1:p.Leu308=
NM_000884.3:c.789C>T MANE Select	NP_000875.2:p.Leu263=