Canonical Allele Identifier: CA352741655

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064413A>G (hg19) ; chr3:g.49026980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026980A>G , CM000665.2:g.49026980A>G	GRCh38
NC_000003.11:g.49064413A>G , CM000665.1:g.49064413A>G	GRCh37
NC_000003.10:g.49039417A>G	NCBI36
NG_012091.1:g.7463T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2639T>C	ENSP00000515567.1:p.Ile880Thr
ENST00000703937.1:c.*1700T>C	ENSP00000515568.1:n.*1700T>C
ENST00000326739.9:c.599T>C MANE Select	ENSP00000321584.4:p.Ile200Thr
ENST00000429182.6:c.599T>C	ENSP00000393525.2:p.Ile200Thr
ENST00000442157.2:c.524T>C	ENSP00000403502.2:p.Ile175Thr
ENST00000462980.2:n.1114T>C
ENST00000472328.2:n.665T>C
ENST00000491610.2:n.486T>C
ENST00000676607.1:n.895T>C
ENST00000676627.1:n.1329T>C
ENST00000676708.1:n.1806T>C
ENST00000676864.1:n.1675T>C
ENST00000677010.1:c.635T>C	ENSP00000503089.1:p.Ile212Thr
ENST00000677108.1:n.2432T>C
ENST00000677168.1:n.1071T>C
ENST00000677185.1:n.1089T>C
ENST00000677205.1:n.1310T>C
ENST00000677344.1:n.1800T>C
ENST00000677480.1:c.*276T>C	ENSP00000504378.1:n.*276T>C
ENST00000677519.1:n.1309T>C
ENST00000677593.1:n.1082T>C
ENST00000677740.1:n.2031T>C
ENST00000677991.1:n.1772T>C
ENST00000678001.1:n.1092T>C
ENST00000678085.1:n.1082T>C
ENST00000678177.1:n.2375T>C
ENST00000678603.1:n.1677T>C
ENST00000678724.1:c.524T>C	ENSP00000503874.1:p.Ile175Thr
ENST00000678920.1:n.757T>C
ENST00000679019.1:n.1296T>C
ENST00000679117.1:c.*414T>C	ENSP00000503240.1:n.*414T>C
ENST00000679339.1:n.1367T>C
ENST00000326739.8:c.599T>C	ENSP00000321584.4:p.Ile200Thr
ENST00000429182.5:c.393T>C
ENST00000442157.1:c.524T>C	ENSP00000403502.1:p.Ile175Thr
ENST00000462980.1:n.501T>C
ENST00000491610.1:n.486T>C
NM_000884.2:c.599T>C	NP_000875.2:p.Ile200Thr
XM_006713128.2:c.809T>C	XP_006713191.1:p.Ile270Thr
XM_006713128.3:c.809T>C	XP_006713191.1:p.Ile270Thr
XM_017006349.1:c.734T>C	XP_016861838.1:p.Ile245Thr
XM_017006350.1:c.734T>C	XP_016861839.1:p.Ile245Thr
NM_000884.3:c.599T>C MANE Select	NP_000875.2:p.Ile200Thr