Canonical Allele Identifier: CA352741649

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1194381242
• gnomAD v2: 3-49064411-G-C
• gnomAD v3: 3-49026978-G-C
• gnomAD v4: 3-49026978-G-C
• MyVariant Identifiers: chr3:g.49064411G>C (hg19) ; chr3:g.49026978G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2641C>G	ENSP00000515567.1:p.Leu881Val
ENST00000703937.1:c.*1702C>G	ENSP00000515568.1:n.*1702C>G
ENST00000326739.9:c.601C>G MANE Select	ENSP00000321584.4:p.Leu201Val
ENST00000429182.6:c.601C>G	ENSP00000393525.2:p.Leu201Val
ENST00000442157.2:c.526C>G	ENSP00000403502.2:p.Leu176Val
ENST00000462980.2:n.1116C>G
ENST00000472328.2:n.667C>G
ENST00000491610.2:n.488C>G
ENST00000676607.1:n.897C>G
ENST00000676627.1:n.1331C>G
ENST00000676708.1:n.1808C>G
ENST00000676864.1:n.1677C>G
ENST00000677010.1:c.637C>G	ENSP00000503089.1:p.Leu213Val
ENST00000677108.1:n.2434C>G
ENST00000677168.1:n.1073C>G
ENST00000677185.1:n.1091C>G
ENST00000677205.1:n.1312C>G
ENST00000677344.1:n.1802C>G
ENST00000677480.1:c.*278C>G	ENSP00000504378.1:n.*278C>G
ENST00000677519.1:n.1311C>G
ENST00000677593.1:n.1084C>G
ENST00000677740.1:n.2033C>G
ENST00000677991.1:n.1774C>G
ENST00000678001.1:n.1094C>G
ENST00000678085.1:n.1084C>G
ENST00000678177.1:n.2377C>G
ENST00000678603.1:n.1679C>G
ENST00000678724.1:c.526C>G	ENSP00000503874.1:p.Leu176Val
ENST00000678920.1:n.759C>G
ENST00000679019.1:n.1298C>G
ENST00000679117.1:c.*416C>G	ENSP00000503240.1:n.*416C>G
ENST00000679339.1:n.1369C>G
ENST00000326739.8:c.601C>G	ENSP00000321584.4:p.Leu201Val
ENST00000429182.5:c.395C>G
ENST00000442157.1:c.526C>G	ENSP00000403502.1:p.Leu176Val
ENST00000462980.1:n.503C>G
ENST00000491610.1:n.488C>G
NM_000884.2:c.601C>G	NP_000875.2:p.Leu201Val
XM_006713128.2:c.811C>G	XP_006713191.1:p.Leu271Val
XM_006713128.3:c.811C>G	XP_006713191.1:p.Leu271Val
XM_017006349.1:c.736C>G	XP_016861838.1:p.Leu246Val
XM_017006350.1:c.736C>G	XP_016861839.1:p.Leu246Val
NM_000884.3:c.601C>G MANE Select	NP_000875.2:p.Leu201Val