Canonical Allele Identifier: CA74018798
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs960431347
gnomAD v2: 3-49064318-T-C
gnomAD v4: 3-49026885-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026885T>C , CM000665.2:g.49026885T>C GRCh38
NC_000003.11:g.49064318T>C , CM000665.1:g.49064318T>C GRCh37
NC_000003.10:g.49039322T>C NCBI36
NG_012091.1:g.7558A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2661A>G ENSP00000515567.1:p.Gly887=
ENST00000703937.1:c.*1722A>G ENSP00000515568.1:n.*1722A>G
ENST00000326739.9:c.621A>G MANE Select ENSP00000321584.4:p.Gly207=
ENST00000429182.6:c.621A>G ENSP00000393525.2:p.Gly207=
ENST00000442157.2:c.546A>G ENSP00000403502.2:p.Gly182=
ENST00000462980.2:n.1136A>G
ENST00000472328.2:n.687A>G
ENST00000491610.2:n.581A>G
ENST00000676607.1:n.917A>G
ENST00000676627.1:n.1351A>G
ENST00000676708.1:n.1901A>G
ENST00000676864.1:n.1770A>G
ENST00000677010.1:c.657A>G ENSP00000503089.1:p.Gly219=
ENST00000677108.1:n.2527A>G
ENST00000677168.1:n.1093A>G
ENST00000677185.1:n.1184A>G
ENST00000677205.1:n.1405A>G
ENST00000677344.1:n.1895A>G
ENST00000677480.1:c.*298A>G ENSP00000504378.1:n.*298A>G
ENST00000677519.1:n.1331A>G
ENST00000677593.1:n.1177A>G
ENST00000677740.1:n.2126A>G
ENST00000677991.1:n.1794A>G
ENST00000678001.1:n.1114A>G
ENST00000678085.1:n.1177A>G
ENST00000678177.1:n.2470A>G
ENST00000678603.1:n.1699A>G
ENST00000678724.1:c.546A>G ENSP00000503874.1:p.Gly182=
ENST00000678920.1:n.779A>G
ENST00000679019.1:n.1391A>G
ENST00000679117.1:c.*436A>G ENSP00000503240.1:n.*436A>G
ENST00000679339.1:n.1462A>G
ENST00000326739.8:c.621A>G ENSP00000321584.4:p.Gly207=
ENST00000429182.5:c.415A>G
ENST00000442157.1:c.546A>G ENSP00000403502.1:p.Gly182=
ENST00000462980.1:n.523A>G
ENST00000491610.1:n.581A>G
NM_000884.2:c.621A>G NP_000875.2:p.Gly207=
XM_006713128.2:c.831A>G XP_006713191.1:p.Gly277=
XM_006713128.3:c.831A>G XP_006713191.1:p.Gly277=
XM_017006349.1:c.756A>G XP_016861838.1:p.Gly252=
XM_017006350.1:c.756A>G XP_016861839.1:p.Gly252=
NM_000884.3:c.621A>G MANE Select NP_000875.2:p.Gly207=