Canonical Allele Identifier: CA352741293

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026883-T-C
• MyVariant Identifiers: chr3:g.49064316T>C (hg19) ; chr3:g.49026883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026883T>C , CM000665.2:g.49026883T>C	GRCh38
NC_000003.11:g.49064316T>C , CM000665.1:g.49064316T>C	GRCh37
NC_000003.10:g.49039320T>C	NCBI36
NG_012091.1:g.7560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2663A>G	ENSP00000515567.1:p.Lys888Arg
ENST00000703937.1:c.*1724A>G	ENSP00000515568.1:n.*1724A>G
ENST00000326739.9:c.623A>G MANE Select	ENSP00000321584.4:p.Lys208Arg
ENST00000429182.6:c.623A>G	ENSP00000393525.2:p.Lys208Arg
ENST00000442157.2:c.548A>G	ENSP00000403502.2:p.Lys183Arg
ENST00000462980.2:n.1138A>G
ENST00000472328.2:n.689A>G
ENST00000491610.2:n.583A>G
ENST00000676607.1:n.919A>G
ENST00000676627.1:n.1353A>G
ENST00000676708.1:n.1903A>G
ENST00000676864.1:n.1772A>G
ENST00000677010.1:c.659A>G	ENSP00000503089.1:p.Lys220Arg
ENST00000677108.1:n.2529A>G
ENST00000677168.1:n.1095A>G
ENST00000677185.1:n.1186A>G
ENST00000677205.1:n.1407A>G
ENST00000677344.1:n.1897A>G
ENST00000677480.1:c.*300A>G	ENSP00000504378.1:n.*300A>G
ENST00000677519.1:n.1333A>G
ENST00000677593.1:n.1179A>G
ENST00000677740.1:n.2128A>G
ENST00000677991.1:n.1796A>G
ENST00000678001.1:n.1116A>G
ENST00000678085.1:n.1179A>G
ENST00000678177.1:n.2472A>G
ENST00000678603.1:n.1701A>G
ENST00000678724.1:c.548A>G	ENSP00000503874.1:p.Lys183Arg
ENST00000678920.1:n.781A>G
ENST00000679019.1:n.1393A>G
ENST00000679117.1:c.*438A>G	ENSP00000503240.1:n.*438A>G
ENST00000679339.1:n.1464A>G
ENST00000326739.8:c.623A>G	ENSP00000321584.4:p.Lys208Arg
ENST00000429182.5:c.417A>G
ENST00000442157.1:c.548A>G	ENSP00000403502.1:p.Lys183Arg
ENST00000462980.1:n.525A>G
ENST00000491610.1:n.583A>G
NM_000884.2:c.623A>G	NP_000875.2:p.Lys208Arg
XM_006713128.2:c.833A>G	XP_006713191.1:p.Lys278Arg
XM_006713128.3:c.833A>G	XP_006713191.1:p.Lys278Arg
XM_017006349.1:c.758A>G	XP_016861838.1:p.Lys253Arg
XM_017006350.1:c.758A>G	XP_016861839.1:p.Lys253Arg
NM_000884.3:c.623A>G MANE Select	NP_000875.2:p.Lys208Arg