Canonical Allele Identifier: CA352740794

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1351616696
• gnomAD v2: 3-49064265-G-C
• gnomAD v3: 3-49026832-G-C
• gnomAD v4: 3-49026832-G-C
• MyVariant Identifiers: chr3:g.49064265G>C (hg19) ; chr3:g.49026832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026832G>C , CM000665.2:g.49026832G>C	GRCh38
NC_000003.11:g.49064265G>C , CM000665.1:g.49064265G>C	GRCh37
NC_000003.10:g.49039269G>C	NCBI36
NG_012091.1:g.7611C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2714C>G	ENSP00000515567.1:p.Thr905Arg
ENST00000703937.1:c.*1775C>G	ENSP00000515568.1:n.*1775C>G
ENST00000326739.9:c.674C>G MANE Select	ENSP00000321584.4:p.Thr225Arg
ENST00000429182.6:c.674C>G	ENSP00000393525.2:p.Thr225Arg
ENST00000442157.2:c.599C>G	ENSP00000403502.2:p.Thr200Arg
ENST00000462980.2:n.1189C>G
ENST00000472328.2:n.740C>G
ENST00000491610.2:n.634C>G
ENST00000676607.1:n.970C>G
ENST00000676627.1:n.1404C>G
ENST00000676708.1:n.1954C>G
ENST00000676864.1:n.1823C>G
ENST00000677010.1:c.710C>G	ENSP00000503089.1:p.Thr237Arg
ENST00000677108.1:n.2580C>G
ENST00000677168.1:n.1146C>G
ENST00000677185.1:n.1237C>G
ENST00000677205.1:n.1458C>G
ENST00000677344.1:n.1948C>G
ENST00000677480.1:c.*351C>G	ENSP00000504378.1:n.*351C>G
ENST00000677519.1:n.1384C>G
ENST00000677593.1:n.1230C>G
ENST00000677740.1:n.2179C>G
ENST00000677991.1:n.1847C>G
ENST00000678001.1:n.1167C>G
ENST00000678085.1:n.1230C>G
ENST00000678177.1:n.2523C>G
ENST00000678603.1:n.1752C>G
ENST00000678724.1:c.599C>G	ENSP00000503874.1:p.Thr200Arg
ENST00000678920.1:n.832C>G
ENST00000679019.1:n.1444C>G
ENST00000679117.1:c.*489C>G	ENSP00000503240.1:n.*489C>G
ENST00000679339.1:n.1515C>G
ENST00000326739.8:c.674C>G	ENSP00000321584.4:p.Thr225Arg
ENST00000429182.5:c.468C>G
ENST00000442157.1:c.599C>G	ENSP00000403502.1:p.Thr200Arg
ENST00000462980.1:n.576C>G
ENST00000491610.1:n.634C>G
NM_000884.2:c.674C>G	NP_000875.2:p.Thr225Arg
XM_006713128.2:c.884C>G	XP_006713191.1:p.Thr295Arg
XM_006713128.3:c.884C>G	XP_006713191.1:p.Thr295Arg
XM_017006349.1:c.809C>G	XP_016861838.1:p.Thr270Arg
XM_017006350.1:c.809C>G	XP_016861839.1:p.Thr270Arg
NM_000884.3:c.674C>G MANE Select	NP_000875.2:p.Thr225Arg