Canonical Allele Identifier: CA352740123

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026744-C-G
• MyVariant Identifiers: chr3:g.49064177C>G (hg19) ; chr3:g.49026744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026744C>G , CM000665.2:g.49026744C>G	GRCh38
NC_000003.11:g.49064177C>G , CM000665.1:g.49064177C>G	GRCh37
NC_000003.10:g.49039181C>G	NCBI36
NG_012091.1:g.7699G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2802G>C	ENSP00000515567.1:p.Glu934Asp
ENST00000703937.1:c.*1863G>C	ENSP00000515568.1:n.*1863G>C
ENST00000326739.9:c.762G>C MANE Select	ENSP00000321584.4:p.Glu254Asp
ENST00000429182.6:c.762G>C	ENSP00000393525.2:p.Glu254Asp
ENST00000442157.2:c.687G>C	ENSP00000403502.2:p.Glu229Asp
ENST00000462980.2:n.1277G>C
ENST00000472328.2:n.828G>C
ENST00000491610.2:n.722G>C
ENST00000676607.1:n.1058G>C
ENST00000676627.1:n.1492G>C
ENST00000676708.1:n.2042G>C
ENST00000676864.1:n.1911G>C
ENST00000677010.1:c.798G>C	ENSP00000503089.1:p.Glu266Asp
ENST00000677108.1:n.2668G>C
ENST00000677168.1:n.1234G>C
ENST00000677185.1:n.1325G>C
ENST00000677205.1:n.1546G>C
ENST00000677344.1:n.2036G>C
ENST00000677480.1:c.*439G>C	ENSP00000504378.1:n.*439G>C
ENST00000677519.1:n.1472G>C
ENST00000677593.1:n.1318G>C
ENST00000677740.1:n.2267G>C
ENST00000677991.1:n.1935G>C
ENST00000678001.1:n.1255G>C
ENST00000678085.1:n.1318G>C
ENST00000678177.1:n.2611G>C
ENST00000678603.1:n.1840G>C
ENST00000678724.1:c.687G>C	ENSP00000503874.1:p.Glu229Asp
ENST00000678920.1:n.920G>C
ENST00000679019.1:n.1532G>C
ENST00000679117.1:c.*577G>C	ENSP00000503240.1:n.*577G>C
ENST00000679339.1:n.1603G>C
ENST00000326739.8:c.762G>C	ENSP00000321584.4:p.Glu254Asp
ENST00000429182.5:c.556G>C
ENST00000442157.1:c.687G>C	ENSP00000403502.1:p.Glu229Asp
ENST00000462980.1:n.664G>C
ENST00000491610.1:n.722G>C
NM_000884.2:c.762G>C	NP_000875.2:p.Glu254Asp
XM_006713128.2:c.972G>C	XP_006713191.1:p.Glu324Asp
XM_006713128.3:c.972G>C	XP_006713191.1:p.Glu324Asp
XM_017006349.1:c.897G>C	XP_016861838.1:p.Glu299Asp
XM_017006350.1:c.897G>C	XP_016861839.1:p.Glu299Asp
NM_000884.3:c.762G>C MANE Select	NP_000875.2:p.Glu254Asp