Canonical Allele Identifier: CA2390655

Gene: IMPDH2

Linked Data

• ClinVar Variation Id: 2398827
• ClinVar RCV Id: RCV004231537
• dbSNP Id: rs140737786
• ExAC: 3:49064398 T / C
• gnomAD v2: 3-49064398-T-C
• gnomAD v3: 3-49026965-T-C
• gnomAD v4: 3-49026965-T-C
• MyVariant Identifiers: chr3:g.49064398T>C (hg19) ; chr3:g.49026965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026965T>C , CM000665.2:g.49026965T>C	GRCh38
NC_000003.11:g.49064398T>C , CM000665.1:g.49064398T>C	GRCh37
NC_000003.10:g.49039402T>C	NCBI36
NG_012091.1:g.7478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2654A>G	ENSP00000515567.1:p.Lys885Arg
ENST00000703937.1:c.*1715A>G	ENSP00000515568.1:n.*1715A>G
ENST00000326739.9:c.614A>G MANE Select	ENSP00000321584.4:p.Lys205Arg
ENST00000429182.6:c.614A>G	ENSP00000393525.2:p.Lys205Arg
ENST00000442157.2:c.539A>G	ENSP00000403502.2:p.Lys180Arg
ENST00000462980.2:n.1129A>G
ENST00000472328.2:n.680A>G
ENST00000491610.2:n.501A>G
ENST00000676607.1:n.910A>G
ENST00000676627.1:n.1344A>G
ENST00000676708.1:n.1821A>G
ENST00000676864.1:n.1690A>G
ENST00000677010.1:c.650A>G	ENSP00000503089.1:p.Lys217Arg
ENST00000677108.1:n.2447A>G
ENST00000677168.1:n.1086A>G
ENST00000677185.1:n.1104A>G
ENST00000677205.1:n.1325A>G
ENST00000677344.1:n.1815A>G
ENST00000677480.1:c.*291A>G	ENSP00000504378.1:n.*291A>G
ENST00000677519.1:n.1324A>G
ENST00000677593.1:n.1097A>G
ENST00000677740.1:n.2046A>G
ENST00000677991.1:n.1787A>G
ENST00000678001.1:n.1107A>G
ENST00000678085.1:n.1097A>G
ENST00000678177.1:n.2390A>G
ENST00000678603.1:n.1692A>G
ENST00000678724.1:c.539A>G	ENSP00000503874.1:p.Lys180Arg
ENST00000678920.1:n.772A>G
ENST00000679019.1:n.1311A>G
ENST00000679117.1:c.*429A>G	ENSP00000503240.1:n.*429A>G
ENST00000679339.1:n.1382A>G
ENST00000326739.8:c.614A>G	ENSP00000321584.4:p.Lys205Arg
ENST00000429182.5:c.408A>G
ENST00000442157.1:c.539A>G	ENSP00000403502.1:p.Lys180Arg
ENST00000462980.1:n.516A>G
ENST00000491610.1:n.501A>G
NM_000884.2:c.614A>G	NP_000875.2:p.Lys205Arg
XM_006713128.2:c.824A>G	XP_006713191.1:p.Lys275Arg
XM_006713128.3:c.824A>G	XP_006713191.1:p.Lys275Arg
XM_017006349.1:c.749A>G	XP_016861838.1:p.Lys250Arg
XM_017006350.1:c.749A>G	XP_016861839.1:p.Lys250Arg
NM_000884.3:c.614A>G MANE Select	NP_000875.2:p.Lys205Arg