Canonical Allele Identifier: CA2390607

Gene: IMPDH2

Linked Data

• dbSNP Id: rs771750284
• ExAC: 3:49064129 T / C
• gnomAD v2: 3-49064129-T-C
• gnomAD v3: 3-49026696-T-C
• gnomAD v4: 3-49026696-T-C
• MyVariant Identifiers: chr3:g.49064129T>C (hg19) ; chr3:g.49026696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026696T>C , CM000665.2:g.49026696T>C	GRCh38
NC_000003.11:g.49064129T>C , CM000665.1:g.49064129T>C	GRCh37
NC_000003.10:g.49039133T>C	NCBI36
NG_012091.1:g.7747A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2850A>G	ENSP00000515567.1:p.Val950=
ENST00000703937.1:c.*1911A>G	ENSP00000515568.1:n.*1911A>G
ENST00000326739.9:c.810A>G MANE Select	ENSP00000321584.4:p.Val270=
ENST00000429182.6:c.810A>G	ENSP00000393525.2:p.Val270=
ENST00000442157.2:c.735A>G	ENSP00000403502.2:p.Val245=
ENST00000462980.2:n.1325A>G
ENST00000472328.2:n.876A>G
ENST00000491610.2:n.770A>G
ENST00000676607.1:n.1106A>G
ENST00000676627.1:n.1540A>G
ENST00000676708.1:n.2090A>G
ENST00000676864.1:n.1959A>G
ENST00000677010.1:c.846A>G	ENSP00000503089.1:p.Val282=
ENST00000677108.1:n.2716A>G
ENST00000677168.1:n.1282A>G
ENST00000677185.1:n.1373A>G
ENST00000677205.1:n.1594A>G
ENST00000677344.1:n.2084A>G
ENST00000677480.1:c.*487A>G	ENSP00000504378.1:n.*487A>G
ENST00000677519.1:n.1520A>G
ENST00000677593.1:n.1366A>G
ENST00000677740.1:n.2315A>G
ENST00000677991.1:n.1983A>G
ENST00000678001.1:n.1303A>G
ENST00000678085.1:n.1366A>G
ENST00000678177.1:n.2659A>G
ENST00000678603.1:n.1888A>G
ENST00000678724.1:c.735A>G	ENSP00000503874.1:p.Val245=
ENST00000678920.1:n.968A>G
ENST00000679019.1:n.1580A>G
ENST00000679117.1:c.*625A>G	ENSP00000503240.1:n.*625A>G
ENST00000679339.1:n.1651A>G
ENST00000326739.8:c.810A>G	ENSP00000321584.4:p.Val270=
ENST00000429182.5:c.604A>G
ENST00000442157.1:c.735A>G	ENSP00000403502.1:p.Val245=
ENST00000462980.1:n.712A>G
ENST00000491610.1:n.770A>G
NM_000884.2:c.810A>G	NP_000875.2:p.Val270=
XM_006713128.2:c.1020A>G	XP_006713191.1:p.Val340=
XM_006713128.3:c.1020A>G	XP_006713191.1:p.Val340=
XM_017006349.1:c.945A>G	XP_016861838.1:p.Val315=
XM_017006350.1:c.945A>G	XP_016861839.1:p.Val315=
NM_000884.3:c.810A>G MANE Select	NP_000875.2:p.Val270=