Canonical Allele Identifier: CA433629538
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026753-G-A
MyVariant Identifiers: chr3:g.49064186G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026753G>A , CM000665.2:g.49026753G>A GRCh38
NC_000003.11:g.49064186G>A , CM000665.1:g.49064186G>A GRCh37
NC_000003.10:g.49039190G>A NCBI36
NG_012091.1:g.7690C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2793C>T ENSP00000515567.1:p.Gly931=
ENST00000703937.1:c.*1854C>T ENSP00000515568.1:n.*1854C>T
ENST00000326739.9:c.753C>T MANE Select ENSP00000321584.4:p.Gly251=
ENST00000429182.6:c.753C>T ENSP00000393525.2:p.Gly251=
ENST00000442157.2:c.678C>T ENSP00000403502.2:p.Gly226=
ENST00000462980.2:n.1268C>T
ENST00000472328.2:n.819C>T
ENST00000491610.2:n.713C>T
ENST00000676607.1:n.1049C>T
ENST00000676627.1:n.1483C>T
ENST00000676708.1:n.2033C>T
ENST00000676864.1:n.1902C>T
ENST00000677010.1:c.789C>T ENSP00000503089.1:p.Gly263=
ENST00000677108.1:n.2659C>T
ENST00000677168.1:n.1225C>T
ENST00000677185.1:n.1316C>T
ENST00000677205.1:n.1537C>T
ENST00000677344.1:n.2027C>T
ENST00000677480.1:c.*430C>T ENSP00000504378.1:n.*430C>T
ENST00000677519.1:n.1463C>T
ENST00000677593.1:n.1309C>T
ENST00000677740.1:n.2258C>T
ENST00000677991.1:n.1926C>T
ENST00000678001.1:n.1246C>T
ENST00000678085.1:n.1309C>T
ENST00000678177.1:n.2602C>T
ENST00000678603.1:n.1831C>T
ENST00000678724.1:c.678C>T ENSP00000503874.1:p.Gly226=
ENST00000678920.1:n.911C>T
ENST00000679019.1:n.1523C>T
ENST00000679117.1:c.*568C>T ENSP00000503240.1:n.*568C>T
ENST00000679339.1:n.1594C>T
ENST00000326739.8:c.753C>T ENSP00000321584.4:p.Gly251=
ENST00000429182.5:c.547C>T
ENST00000442157.1:c.678C>T ENSP00000403502.1:p.Gly226=
ENST00000462980.1:n.655C>T
ENST00000491610.1:n.713C>T
NM_000884.2:c.753C>T NP_000875.2:p.Gly251=
XM_006713128.2:c.963C>T XP_006713191.1:p.Gly321=
XM_006713128.3:c.963C>T XP_006713191.1:p.Gly321=
XM_017006349.1:c.888C>T XP_016861838.1:p.Gly296=
XM_017006350.1:c.888C>T XP_016861839.1:p.Gly296=
NM_000884.3:c.753C>T MANE Select NP_000875.2:p.Gly251=