Canonical Allele Identifier: CA433629514

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064159C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026726C>G , CM000665.2:g.49026726C>G	GRCh38
NC_000003.11:g.49064159C>G , CM000665.1:g.49064159C>G	GRCh37
NC_000003.10:g.49039163C>G	NCBI36
NG_012091.1:g.7717G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2820G>C	ENSP00000515567.1:p.Leu940=
ENST00000703937.1:c.*1881G>C	ENSP00000515568.1:n.*1881G>C
ENST00000326739.9:c.780G>C MANE Select	ENSP00000321584.4:p.Leu260=
ENST00000429182.6:c.780G>C	ENSP00000393525.2:p.Leu260=
ENST00000442157.2:c.705G>C	ENSP00000403502.2:p.Leu235=
ENST00000462980.2:n.1295G>C
ENST00000472328.2:n.846G>C
ENST00000491610.2:n.740G>C
ENST00000676607.1:n.1076G>C
ENST00000676627.1:n.1510G>C
ENST00000676708.1:n.2060G>C
ENST00000676864.1:n.1929G>C
ENST00000677010.1:c.816G>C	ENSP00000503089.1:p.Leu272=
ENST00000677108.1:n.2686G>C
ENST00000677168.1:n.1252G>C
ENST00000677185.1:n.1343G>C
ENST00000677205.1:n.1564G>C
ENST00000677344.1:n.2054G>C
ENST00000677480.1:c.*457G>C	ENSP00000504378.1:n.*457G>C
ENST00000677519.1:n.1490G>C
ENST00000677593.1:n.1336G>C
ENST00000677740.1:n.2285G>C
ENST00000677991.1:n.1953G>C
ENST00000678001.1:n.1273G>C
ENST00000678085.1:n.1336G>C
ENST00000678177.1:n.2629G>C
ENST00000678603.1:n.1858G>C
ENST00000678724.1:c.705G>C	ENSP00000503874.1:p.Leu235=
ENST00000678920.1:n.938G>C
ENST00000679019.1:n.1550G>C
ENST00000679117.1:c.*595G>C	ENSP00000503240.1:n.*595G>C
ENST00000679339.1:n.1621G>C
ENST00000326739.8:c.780G>C	ENSP00000321584.4:p.Leu260=
ENST00000429182.5:c.574G>C
ENST00000442157.1:c.705G>C	ENSP00000403502.1:p.Leu235=
ENST00000462980.1:n.682G>C
ENST00000491610.1:n.740G>C
NM_000884.2:c.780G>C	NP_000875.2:p.Leu260=
XM_006713128.2:c.990G>C	XP_006713191.1:p.Leu330=
XM_006713128.3:c.990G>C	XP_006713191.1:p.Leu330=
XM_017006349.1:c.915G>C	XP_016861838.1:p.Leu305=
XM_017006350.1:c.915G>C	XP_016861839.1:p.Leu305=
NM_000884.3:c.780G>C MANE Select	NP_000875.2:p.Leu260=