Canonical Allele Identifier: CA352740272

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064199C>A (hg19) ; chr3:g.49026766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026766C>A , CM000665.2:g.49026766C>A	GRCh38
NC_000003.11:g.49064199C>A , CM000665.1:g.49064199C>A	GRCh37
NC_000003.10:g.49039203C>A	NCBI36
NG_012091.1:g.7677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2780G>T	ENSP00000515567.1:p.Gly927Val
ENST00000703937.1:c.*1841G>T	ENSP00000515568.1:n.*1841G>T
ENST00000326739.9:c.740G>T MANE Select	ENSP00000321584.4:p.Gly247Val
ENST00000429182.6:c.740G>T	ENSP00000393525.2:p.Gly247Val
ENST00000442157.2:c.665G>T	ENSP00000403502.2:p.Gly222Val
ENST00000462980.2:n.1255G>T
ENST00000472328.2:n.806G>T
ENST00000491610.2:n.700G>T
ENST00000676607.1:n.1036G>T
ENST00000676627.1:n.1470G>T
ENST00000676708.1:n.2020G>T
ENST00000676864.1:n.1889G>T
ENST00000677010.1:c.776G>T	ENSP00000503089.1:p.Gly259Val
ENST00000677108.1:n.2646G>T
ENST00000677168.1:n.1212G>T
ENST00000677185.1:n.1303G>T
ENST00000677205.1:n.1524G>T
ENST00000677344.1:n.2014G>T
ENST00000677480.1:c.*417G>T	ENSP00000504378.1:n.*417G>T
ENST00000677519.1:n.1450G>T
ENST00000677593.1:n.1296G>T
ENST00000677740.1:n.2245G>T
ENST00000677991.1:n.1913G>T
ENST00000678001.1:n.1233G>T
ENST00000678085.1:n.1296G>T
ENST00000678177.1:n.2589G>T
ENST00000678603.1:n.1818G>T
ENST00000678724.1:c.665G>T	ENSP00000503874.1:p.Gly222Val
ENST00000678920.1:n.898G>T
ENST00000679019.1:n.1510G>T
ENST00000679117.1:c.*555G>T	ENSP00000503240.1:n.*555G>T
ENST00000679339.1:n.1581G>T
ENST00000326739.8:c.740G>T	ENSP00000321584.4:p.Gly247Val
ENST00000429182.5:c.534G>T
ENST00000442157.1:c.665G>T	ENSP00000403502.1:p.Gly222Val
ENST00000462980.1:n.642G>T
ENST00000491610.1:n.700G>T
NM_000884.2:c.740G>T	NP_000875.2:p.Gly247Val
XM_006713128.2:c.950G>T	XP_006713191.1:p.Gly317Val
XM_006713128.3:c.950G>T	XP_006713191.1:p.Gly317Val
XM_017006349.1:c.875G>T	XP_016861838.1:p.Gly292Val
XM_017006350.1:c.875G>T	XP_016861839.1:p.Gly292Val
NM_000884.3:c.740G>T MANE Select	NP_000875.2:p.Gly247Val