Canonical Allele Identifier: CA2390620

Gene: IMPDH2

Linked Data

• dbSNP Id: rs753958492
• ExAC: 3:49064197 C / G
• gnomAD v2: 3-49064197-C-G
• gnomAD v4: 3-49026764-C-G
• MyVariant Identifiers: chr3:g.49064197C>G (hg19) ; chr3:g.49026764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026764C>G , CM000665.2:g.49026764C>G	GRCh38
NC_000003.11:g.49064197C>G , CM000665.1:g.49064197C>G	GRCh37
NC_000003.10:g.49039201C>G	NCBI36
NG_012091.1:g.7679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2782G>C	ENSP00000515567.1:p.Ala928Pro
ENST00000703937.1:c.*1843G>C	ENSP00000515568.1:n.*1843G>C
ENST00000326739.9:c.742G>C MANE Select	ENSP00000321584.4:p.Ala248Pro
ENST00000429182.6:c.742G>C	ENSP00000393525.2:p.Ala248Pro
ENST00000442157.2:c.667G>C	ENSP00000403502.2:p.Ala223Pro
ENST00000462980.2:n.1257G>C
ENST00000472328.2:n.808G>C
ENST00000491610.2:n.702G>C
ENST00000676607.1:n.1038G>C
ENST00000676627.1:n.1472G>C
ENST00000676708.1:n.2022G>C
ENST00000676864.1:n.1891G>C
ENST00000677010.1:c.778G>C	ENSP00000503089.1:p.Ala260Pro
ENST00000677108.1:n.2648G>C
ENST00000677168.1:n.1214G>C
ENST00000677185.1:n.1305G>C
ENST00000677205.1:n.1526G>C
ENST00000677344.1:n.2016G>C
ENST00000677480.1:c.*419G>C	ENSP00000504378.1:n.*419G>C
ENST00000677519.1:n.1452G>C
ENST00000677593.1:n.1298G>C
ENST00000677740.1:n.2247G>C
ENST00000677991.1:n.1915G>C
ENST00000678001.1:n.1235G>C
ENST00000678085.1:n.1298G>C
ENST00000678177.1:n.2591G>C
ENST00000678603.1:n.1820G>C
ENST00000678724.1:c.667G>C	ENSP00000503874.1:p.Ala223Pro
ENST00000678920.1:n.900G>C
ENST00000679019.1:n.1512G>C
ENST00000679117.1:c.*557G>C	ENSP00000503240.1:n.*557G>C
ENST00000679339.1:n.1583G>C
ENST00000326739.8:c.742G>C	ENSP00000321584.4:p.Ala248Pro
ENST00000429182.5:c.536G>C
ENST00000442157.1:c.667G>C	ENSP00000403502.1:p.Ala223Pro
ENST00000462980.1:n.644G>C
ENST00000491610.1:n.702G>C
NM_000884.2:c.742G>C	NP_000875.2:p.Ala248Pro
XM_006713128.2:c.952G>C	XP_006713191.1:p.Ala318Pro
XM_006713128.3:c.952G>C	XP_006713191.1:p.Ala318Pro
XM_017006349.1:c.877G>C	XP_016861838.1:p.Ala293Pro
XM_017006350.1:c.877G>C	XP_016861839.1:p.Ala293Pro
NM_000884.3:c.742G>C MANE Select	NP_000875.2:p.Ala248Pro