Canonical Allele Identifier: CA352740860
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026844-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026844A>T , CM000665.2:g.49026844A>T GRCh38
NC_000003.11:g.49064277A>T , CM000665.1:g.49064277A>T GRCh37
NC_000003.10:g.49039281A>T NCBI36
NG_012091.1:g.7599T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2702T>A ENSP00000515567.1:p.Ile901Asn
ENST00000703937.1:c.*1763T>A ENSP00000515568.1:n.*1763T>A
ENST00000326739.9:c.662T>A MANE Select ENSP00000321584.4:p.Ile221Asn
ENST00000429182.6:c.662T>A ENSP00000393525.2:p.Ile221Asn
ENST00000442157.2:c.587T>A ENSP00000403502.2:p.Ile196Asn
ENST00000462980.2:n.1177T>A
ENST00000472328.2:n.728T>A
ENST00000491610.2:n.622T>A
ENST00000676607.1:n.958T>A
ENST00000676627.1:n.1392T>A
ENST00000676708.1:n.1942T>A
ENST00000676864.1:n.1811T>A
ENST00000677010.1:c.698T>A ENSP00000503089.1:p.Ile233Asn
ENST00000677108.1:n.2568T>A
ENST00000677168.1:n.1134T>A
ENST00000677185.1:n.1225T>A
ENST00000677205.1:n.1446T>A
ENST00000677344.1:n.1936T>A
ENST00000677480.1:c.*339T>A ENSP00000504378.1:n.*339T>A
ENST00000677519.1:n.1372T>A
ENST00000677593.1:n.1218T>A
ENST00000677740.1:n.2167T>A
ENST00000677991.1:n.1835T>A
ENST00000678001.1:n.1155T>A
ENST00000678085.1:n.1218T>A
ENST00000678177.1:n.2511T>A
ENST00000678603.1:n.1740T>A
ENST00000678724.1:c.587T>A ENSP00000503874.1:p.Ile196Asn
ENST00000678920.1:n.820T>A
ENST00000679019.1:n.1432T>A
ENST00000679117.1:c.*477T>A ENSP00000503240.1:n.*477T>A
ENST00000679339.1:n.1503T>A
ENST00000326739.8:c.662T>A ENSP00000321584.4:p.Ile221Asn
ENST00000429182.5:c.456T>A
ENST00000442157.1:c.587T>A ENSP00000403502.1:p.Ile196Asn
ENST00000462980.1:n.564T>A
ENST00000491610.1:n.622T>A
NM_000884.2:c.662T>A NP_000875.2:p.Ile221Asn
XM_006713128.2:c.872T>A XP_006713191.1:p.Ile291Asn
XM_006713128.3:c.872T>A XP_006713191.1:p.Ile291Asn
XM_017006349.1:c.797T>A XP_016861838.1:p.Ile266Asn
XM_017006350.1:c.797T>A XP_016861839.1:p.Ile266Asn
NM_000884.3:c.662T>A MANE Select NP_000875.2:p.Ile221Asn