Canonical Allele Identifier: CA352740363

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064214T>G (hg19) ; chr3:g.49026781T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026781T>G , CM000665.2:g.49026781T>G	GRCh38
NC_000003.11:g.49064214T>G , CM000665.1:g.49064214T>G	GRCh37
NC_000003.10:g.49039218T>G	NCBI36
NG_012091.1:g.7662A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2765A>C	ENSP00000515567.1:p.Lys922Thr
ENST00000703937.1:c.*1826A>C	ENSP00000515568.1:n.*1826A>C
ENST00000326739.9:c.725A>C MANE Select	ENSP00000321584.4:p.Lys242Thr
ENST00000429182.6:c.725A>C	ENSP00000393525.2:p.Lys242Thr
ENST00000442157.2:c.650A>C	ENSP00000403502.2:p.Lys217Thr
ENST00000462980.2:n.1240A>C
ENST00000472328.2:n.791A>C
ENST00000491610.2:n.685A>C
ENST00000676607.1:n.1021A>C
ENST00000676627.1:n.1455A>C
ENST00000676708.1:n.2005A>C
ENST00000676864.1:n.1874A>C
ENST00000677010.1:c.761A>C	ENSP00000503089.1:p.Lys254Thr
ENST00000677108.1:n.2631A>C
ENST00000677168.1:n.1197A>C
ENST00000677185.1:n.1288A>C
ENST00000677205.1:n.1509A>C
ENST00000677344.1:n.1999A>C
ENST00000677480.1:c.*402A>C	ENSP00000504378.1:n.*402A>C
ENST00000677519.1:n.1435A>C
ENST00000677593.1:n.1281A>C
ENST00000677740.1:n.2230A>C
ENST00000677991.1:n.1898A>C
ENST00000678001.1:n.1218A>C
ENST00000678085.1:n.1281A>C
ENST00000678177.1:n.2574A>C
ENST00000678603.1:n.1803A>C
ENST00000678724.1:c.650A>C	ENSP00000503874.1:p.Lys217Thr
ENST00000678920.1:n.883A>C
ENST00000679019.1:n.1495A>C
ENST00000679117.1:c.*540A>C	ENSP00000503240.1:n.*540A>C
ENST00000679339.1:n.1566A>C
ENST00000326739.8:c.725A>C	ENSP00000321584.4:p.Lys242Thr
ENST00000429182.5:c.519A>C
ENST00000442157.1:c.650A>C	ENSP00000403502.1:p.Lys217Thr
ENST00000462980.1:n.627A>C
ENST00000491610.1:n.685A>C
NM_000884.2:c.725A>C	NP_000875.2:p.Lys242Thr
XM_006713128.2:c.935A>C	XP_006713191.1:p.Lys312Thr
XM_006713128.3:c.935A>C	XP_006713191.1:p.Lys312Thr
XM_017006349.1:c.860A>C	XP_016861838.1:p.Lys287Thr
XM_017006350.1:c.860A>C	XP_016861839.1:p.Lys287Thr
NM_000884.3:c.725A>C MANE Select	NP_000875.2:p.Lys242Thr