Canonical Allele Identifier: CA352741657

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2639T>G	ENSP00000515567.1:p.Ile880Ser
ENST00000703937.1:c.*1700T>G	ENSP00000515568.1:n.*1700T>G
ENST00000326739.9:c.599T>G MANE Select	ENSP00000321584.4:p.Ile200Ser
ENST00000429182.6:c.599T>G	ENSP00000393525.2:p.Ile200Ser
ENST00000442157.2:c.524T>G	ENSP00000403502.2:p.Ile175Ser
ENST00000462980.2:n.1114T>G
ENST00000472328.2:n.665T>G
ENST00000491610.2:n.486T>G
ENST00000676607.1:n.895T>G
ENST00000676627.1:n.1329T>G
ENST00000676708.1:n.1806T>G
ENST00000676864.1:n.1675T>G
ENST00000677010.1:c.635T>G	ENSP00000503089.1:p.Ile212Ser
ENST00000677108.1:n.2432T>G
ENST00000677168.1:n.1071T>G
ENST00000677185.1:n.1089T>G
ENST00000677205.1:n.1310T>G
ENST00000677344.1:n.1800T>G
ENST00000677480.1:c.*276T>G	ENSP00000504378.1:n.*276T>G
ENST00000677519.1:n.1309T>G
ENST00000677593.1:n.1082T>G
ENST00000677740.1:n.2031T>G
ENST00000677991.1:n.1772T>G
ENST00000678001.1:n.1092T>G
ENST00000678085.1:n.1082T>G
ENST00000678177.1:n.2375T>G
ENST00000678603.1:n.1677T>G
ENST00000678724.1:c.524T>G	ENSP00000503874.1:p.Ile175Ser
ENST00000678920.1:n.757T>G
ENST00000679019.1:n.1296T>G
ENST00000679117.1:c.*414T>G	ENSP00000503240.1:n.*414T>G
ENST00000679339.1:n.1367T>G
ENST00000326739.8:c.599T>G	ENSP00000321584.4:p.Ile200Ser
ENST00000429182.5:c.393T>G
ENST00000442157.1:c.524T>G	ENSP00000403502.1:p.Ile175Ser
ENST00000462980.1:n.501T>G
ENST00000491610.1:n.486T>G
NM_000884.2:c.599T>G	NP_000875.2:p.Ile200Ser
XM_006713128.2:c.809T>G	XP_006713191.1:p.Ile270Ser
XM_006713128.3:c.809T>G	XP_006713191.1:p.Ile270Ser
XM_017006349.1:c.734T>G	XP_016861838.1:p.Ile245Ser
XM_017006350.1:c.734T>G	XP_016861839.1:p.Ile245Ser
NM_000884.3:c.599T>G MANE Select	NP_000875.2:p.Ile200Ser