Canonical Allele Identifier: CA352739983

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026722-A-T
• MyVariant Identifiers: chr3:g.49064155A>T (hg19) ; chr3:g.49026722A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026722A>T , CM000665.2:g.49026722A>T	GRCh38
NC_000003.11:g.49064155A>T , CM000665.1:g.49064155A>T	GRCh37
NC_000003.10:g.49039159A>T	NCBI36
NG_012091.1:g.7721T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2824T>A	ENSP00000515567.1:p.Leu942Met
ENST00000703937.1:c.*1885T>A	ENSP00000515568.1:n.*1885T>A
ENST00000326739.9:c.784T>A MANE Select	ENSP00000321584.4:p.Leu262Met
ENST00000429182.6:c.784T>A	ENSP00000393525.2:p.Leu262Met
ENST00000442157.2:c.709T>A	ENSP00000403502.2:p.Leu237Met
ENST00000462980.2:n.1299T>A
ENST00000472328.2:n.850T>A
ENST00000491610.2:n.744T>A
ENST00000676607.1:n.1080T>A
ENST00000676627.1:n.1514T>A
ENST00000676708.1:n.2064T>A
ENST00000676864.1:n.1933T>A
ENST00000677010.1:c.820T>A	ENSP00000503089.1:p.Leu274Met
ENST00000677108.1:n.2690T>A
ENST00000677168.1:n.1256T>A
ENST00000677185.1:n.1347T>A
ENST00000677205.1:n.1568T>A
ENST00000677344.1:n.2058T>A
ENST00000677480.1:c.*461T>A	ENSP00000504378.1:n.*461T>A
ENST00000677519.1:n.1494T>A
ENST00000677593.1:n.1340T>A
ENST00000677740.1:n.2289T>A
ENST00000677991.1:n.1957T>A
ENST00000678001.1:n.1277T>A
ENST00000678085.1:n.1340T>A
ENST00000678177.1:n.2633T>A
ENST00000678603.1:n.1862T>A
ENST00000678724.1:c.709T>A	ENSP00000503874.1:p.Leu237Met
ENST00000678920.1:n.942T>A
ENST00000679019.1:n.1554T>A
ENST00000679117.1:c.*599T>A	ENSP00000503240.1:n.*599T>A
ENST00000679339.1:n.1625T>A
ENST00000326739.8:c.784T>A	ENSP00000321584.4:p.Leu262Met
ENST00000429182.5:c.578T>A
ENST00000442157.1:c.709T>A	ENSP00000403502.1:p.Leu237Met
ENST00000462980.1:n.686T>A
ENST00000491610.1:n.744T>A
NM_000884.2:c.784T>A	NP_000875.2:p.Leu262Met
XM_006713128.2:c.994T>A	XP_006713191.1:p.Leu332Met
XM_006713128.3:c.994T>A	XP_006713191.1:p.Leu332Met
XM_017006349.1:c.919T>A	XP_016861838.1:p.Leu307Met
XM_017006350.1:c.919T>A	XP_016861839.1:p.Leu307Met
NM_000884.3:c.784T>A MANE Select	NP_000875.2:p.Leu262Met