Canonical Allele Identifier: CA352741617

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1339313180
• gnomAD v2: 3-49064407-T-A
• gnomAD v4: 3-49026974-T-A
• MyVariant Identifiers: chr3:g.49064407T>A (hg19) ; chr3:g.49026974T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026974T>A , CM000665.2:g.49026974T>A	GRCh38
NC_000003.11:g.49064407T>A , CM000665.1:g.49064407T>A	GRCh37
NC_000003.10:g.49039411T>A	NCBI36
NG_012091.1:g.7469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2645A>T	ENSP00000515567.1:p.Gln882Leu
ENST00000703937.1:c.*1706A>T	ENSP00000515568.1:n.*1706A>T
ENST00000326739.9:c.605A>T MANE Select	ENSP00000321584.4:p.Gln202Leu
ENST00000429182.6:c.605A>T	ENSP00000393525.2:p.Gln202Leu
ENST00000442157.2:c.530A>T	ENSP00000403502.2:p.Gln177Leu
ENST00000462980.2:n.1120A>T
ENST00000472328.2:n.671A>T
ENST00000491610.2:n.492A>T
ENST00000676607.1:n.901A>T
ENST00000676627.1:n.1335A>T
ENST00000676708.1:n.1812A>T
ENST00000676864.1:n.1681A>T
ENST00000677010.1:c.641A>T	ENSP00000503089.1:p.Gln214Leu
ENST00000677108.1:n.2438A>T
ENST00000677168.1:n.1077A>T
ENST00000677185.1:n.1095A>T
ENST00000677205.1:n.1316A>T
ENST00000677344.1:n.1806A>T
ENST00000677480.1:c.*282A>T	ENSP00000504378.1:n.*282A>T
ENST00000677519.1:n.1315A>T
ENST00000677593.1:n.1088A>T
ENST00000677740.1:n.2037A>T
ENST00000677991.1:n.1778A>T
ENST00000678001.1:n.1098A>T
ENST00000678085.1:n.1088A>T
ENST00000678177.1:n.2381A>T
ENST00000678603.1:n.1683A>T
ENST00000678724.1:c.530A>T	ENSP00000503874.1:p.Gln177Leu
ENST00000678920.1:n.763A>T
ENST00000679019.1:n.1302A>T
ENST00000679117.1:c.*420A>T	ENSP00000503240.1:n.*420A>T
ENST00000679339.1:n.1373A>T
ENST00000326739.8:c.605A>T	ENSP00000321584.4:p.Gln202Leu
ENST00000429182.5:c.399A>T
ENST00000442157.1:c.530A>T	ENSP00000403502.1:p.Gln177Leu
ENST00000462980.1:n.507A>T
ENST00000491610.1:n.492A>T
NM_000884.2:c.605A>T	NP_000875.2:p.Gln202Leu
XM_006713128.2:c.815A>T	XP_006713191.1:p.Gln272Leu
XM_006713128.3:c.815A>T	XP_006713191.1:p.Gln272Leu
XM_017006349.1:c.740A>T	XP_016861838.1:p.Gln247Leu
XM_017006350.1:c.740A>T	XP_016861839.1:p.Gln247Leu
NM_000884.3:c.605A>T MANE Select	NP_000875.2:p.Gln202Leu