Canonical Allele Identifier: CA352740525

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064233C>A (hg19) ; chr3:g.49026800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026800C>A , CM000665.2:g.49026800C>A	GRCh38
NC_000003.11:g.49064233C>A , CM000665.1:g.49064233C>A	GRCh37
NC_000003.10:g.49039237C>A	NCBI36
NG_012091.1:g.7643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2746G>T	ENSP00000515567.1:p.Ala916Ser
ENST00000703937.1:c.*1807G>T	ENSP00000515568.1:n.*1807G>T
ENST00000326739.9:c.706G>T MANE Select	ENSP00000321584.4:p.Ala236Ser
ENST00000429182.6:c.706G>T	ENSP00000393525.2:p.Ala236Ser
ENST00000442157.2:c.631G>T	ENSP00000403502.2:p.Ala211Ser
ENST00000462980.2:n.1221G>T
ENST00000472328.2:n.772G>T
ENST00000491610.2:n.666G>T
ENST00000676607.1:n.1002G>T
ENST00000676627.1:n.1436G>T
ENST00000676708.1:n.1986G>T
ENST00000676864.1:n.1855G>T
ENST00000677010.1:c.742G>T	ENSP00000503089.1:p.Ala248Ser
ENST00000677108.1:n.2612G>T
ENST00000677168.1:n.1178G>T
ENST00000677185.1:n.1269G>T
ENST00000677205.1:n.1490G>T
ENST00000677344.1:n.1980G>T
ENST00000677480.1:c.*383G>T	ENSP00000504378.1:n.*383G>T
ENST00000677519.1:n.1416G>T
ENST00000677593.1:n.1262G>T
ENST00000677740.1:n.2211G>T
ENST00000677991.1:n.1879G>T
ENST00000678001.1:n.1199G>T
ENST00000678085.1:n.1262G>T
ENST00000678177.1:n.2555G>T
ENST00000678603.1:n.1784G>T
ENST00000678724.1:c.631G>T	ENSP00000503874.1:p.Ala211Ser
ENST00000678920.1:n.864G>T
ENST00000679019.1:n.1476G>T
ENST00000679117.1:c.*521G>T	ENSP00000503240.1:n.*521G>T
ENST00000679339.1:n.1547G>T
ENST00000326739.8:c.706G>T	ENSP00000321584.4:p.Ala236Ser
ENST00000429182.5:c.500G>T
ENST00000442157.1:c.631G>T	ENSP00000403502.1:p.Ala211Ser
ENST00000462980.1:n.608G>T
ENST00000491610.1:n.666G>T
NM_000884.2:c.706G>T	NP_000875.2:p.Ala236Ser
XM_006713128.2:c.916G>T	XP_006713191.1:p.Ala306Ser
XM_006713128.3:c.916G>T	XP_006713191.1:p.Ala306Ser
XM_017006349.1:c.841G>T	XP_016861838.1:p.Ala281Ser
XM_017006350.1:c.841G>T	XP_016861839.1:p.Ala281Ser
NM_000884.3:c.706G>T MANE Select	NP_000875.2:p.Ala236Ser