Canonical Allele Identifier: CA74018704

Gene: IMPDH2

Linked Data

• dbSNP Id: rs771647809
• gnomAD v2: 3-49064176-C-T
• gnomAD v4: 3-49026743-C-T
• MyVariant Identifiers: chr3:g.49064176C>T (hg19) ; chr3:g.49026743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026743C>T , CM000665.2:g.49026743C>T	GRCh38
NC_000003.11:g.49064176C>T , CM000665.1:g.49064176C>T	GRCh37
NC_000003.10:g.49039180C>T	NCBI36
NG_012091.1:g.7700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2803G>A	ENSP00000515567.1:p.Asp935Asn
ENST00000703937.1:c.*1864G>A	ENSP00000515568.1:n.*1864G>A
ENST00000326739.9:c.763G>A MANE Select	ENSP00000321584.4:p.Asp255Asn
ENST00000429182.6:c.763G>A	ENSP00000393525.2:p.Asp255Asn
ENST00000442157.2:c.688G>A	ENSP00000403502.2:p.Asp230Asn
ENST00000462980.2:n.1278G>A
ENST00000472328.2:n.829G>A
ENST00000491610.2:n.723G>A
ENST00000676607.1:n.1059G>A
ENST00000676627.1:n.1493G>A
ENST00000676708.1:n.2043G>A
ENST00000676864.1:n.1912G>A
ENST00000677010.1:c.799G>A	ENSP00000503089.1:p.Asp267Asn
ENST00000677108.1:n.2669G>A
ENST00000677168.1:n.1235G>A
ENST00000677185.1:n.1326G>A
ENST00000677205.1:n.1547G>A
ENST00000677344.1:n.2037G>A
ENST00000677480.1:c.*440G>A	ENSP00000504378.1:n.*440G>A
ENST00000677519.1:n.1473G>A
ENST00000677593.1:n.1319G>A
ENST00000677740.1:n.2268G>A
ENST00000677991.1:n.1936G>A
ENST00000678001.1:n.1256G>A
ENST00000678085.1:n.1319G>A
ENST00000678177.1:n.2612G>A
ENST00000678603.1:n.1841G>A
ENST00000678724.1:c.688G>A	ENSP00000503874.1:p.Asp230Asn
ENST00000678920.1:n.921G>A
ENST00000679019.1:n.1533G>A
ENST00000679117.1:c.*578G>A	ENSP00000503240.1:n.*578G>A
ENST00000679339.1:n.1604G>A
ENST00000326739.8:c.763G>A	ENSP00000321584.4:p.Asp255Asn
ENST00000429182.5:c.557G>A
ENST00000442157.1:c.688G>A	ENSP00000403502.1:p.Asp230Asn
ENST00000462980.1:n.665G>A
ENST00000491610.1:n.723G>A
NM_000884.2:c.763G>A	NP_000875.2:p.Asp255Asn
XM_006713128.2:c.973G>A	XP_006713191.1:p.Asp325Asn
XM_006713128.3:c.973G>A	XP_006713191.1:p.Asp325Asn
XM_017006349.1:c.898G>A	XP_016861838.1:p.Asp300Asn
XM_017006350.1:c.898G>A	XP_016861839.1:p.Asp300Asn
NM_000884.3:c.763G>A MANE Select	NP_000875.2:p.Asp255Asn