Canonical Allele Identifier: CA433629579
Gene: IMPDH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49064225T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026792T>C , CM000665.2:g.49026792T>C GRCh38
NC_000003.11:g.49064225T>C , CM000665.1:g.49064225T>C GRCh37
NC_000003.10:g.49039229T>C NCBI36
NG_012091.1:g.7651A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2754A>G ENSP00000515567.1:p.Lys918=
ENST00000703937.1:c.*1815A>G ENSP00000515568.1:n.*1815A>G
ENST00000326739.9:c.714A>G MANE Select ENSP00000321584.4:p.Lys238=
ENST00000429182.6:c.714A>G ENSP00000393525.2:p.Lys238=
ENST00000442157.2:c.639A>G ENSP00000403502.2:p.Lys213=
ENST00000462980.2:n.1229A>G
ENST00000472328.2:n.780A>G
ENST00000491610.2:n.674A>G
ENST00000676607.1:n.1010A>G
ENST00000676627.1:n.1444A>G
ENST00000676708.1:n.1994A>G
ENST00000676864.1:n.1863A>G
ENST00000677010.1:c.750A>G ENSP00000503089.1:p.Lys250=
ENST00000677108.1:n.2620A>G
ENST00000677168.1:n.1186A>G
ENST00000677185.1:n.1277A>G
ENST00000677205.1:n.1498A>G
ENST00000677344.1:n.1988A>G
ENST00000677480.1:c.*391A>G ENSP00000504378.1:n.*391A>G
ENST00000677519.1:n.1424A>G
ENST00000677593.1:n.1270A>G
ENST00000677740.1:n.2219A>G
ENST00000677991.1:n.1887A>G
ENST00000678001.1:n.1207A>G
ENST00000678085.1:n.1270A>G
ENST00000678177.1:n.2563A>G
ENST00000678603.1:n.1792A>G
ENST00000678724.1:c.639A>G ENSP00000503874.1:p.Lys213=
ENST00000678920.1:n.872A>G
ENST00000679019.1:n.1484A>G
ENST00000679117.1:c.*529A>G ENSP00000503240.1:n.*529A>G
ENST00000679339.1:n.1555A>G
ENST00000326739.8:c.714A>G ENSP00000321584.4:p.Lys238=
ENST00000429182.5:c.508A>G
ENST00000442157.1:c.639A>G ENSP00000403502.1:p.Lys213=
ENST00000462980.1:n.616A>G
ENST00000491610.1:n.674A>G
NM_000884.2:c.714A>G NP_000875.2:p.Lys238=
XM_006713128.2:c.924A>G XP_006713191.1:p.Lys308=
XM_006713128.3:c.924A>G XP_006713191.1:p.Lys308=
XM_017006349.1:c.849A>G XP_016861838.1:p.Lys283=
XM_017006350.1:c.849A>G XP_016861839.1:p.Lys283=
NM_000884.3:c.714A>G MANE Select NP_000875.2:p.Lys238=