Canonical Allele Identifier: CA352741501

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064397C>A (hg19) ; chr3:g.49026964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026964C>A , CM000665.2:g.49026964C>A	GRCh38
NC_000003.11:g.49064397C>A , CM000665.1:g.49064397C>A	GRCh37
NC_000003.10:g.49039401C>A	NCBI36
NG_012091.1:g.7479G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2655G>T	ENSP00000515567.1:p.Lys885Asn
ENST00000703937.1:c.*1716G>T	ENSP00000515568.1:n.*1716G>T
ENST00000326739.9:c.615G>T MANE Select	ENSP00000321584.4:p.Lys205Asn
ENST00000429182.6:c.615G>T	ENSP00000393525.2:p.Lys205Asn
ENST00000442157.2:c.540G>T	ENSP00000403502.2:p.Lys180Asn
ENST00000462980.2:n.1130G>T
ENST00000472328.2:n.681G>T
ENST00000491610.2:n.502G>T
ENST00000676607.1:n.911G>T
ENST00000676627.1:n.1345G>T
ENST00000676708.1:n.1822G>T
ENST00000676864.1:n.1691G>T
ENST00000677010.1:c.651G>T	ENSP00000503089.1:p.Lys217Asn
ENST00000677108.1:n.2448G>T
ENST00000677168.1:n.1087G>T
ENST00000677185.1:n.1105G>T
ENST00000677205.1:n.1326G>T
ENST00000677344.1:n.1816G>T
ENST00000677480.1:c.*292G>T	ENSP00000504378.1:n.*292G>T
ENST00000677519.1:n.1325G>T
ENST00000677593.1:n.1098G>T
ENST00000677740.1:n.2047G>T
ENST00000677991.1:n.1788G>T
ENST00000678001.1:n.1108G>T
ENST00000678085.1:n.1098G>T
ENST00000678177.1:n.2391G>T
ENST00000678603.1:n.1693G>T
ENST00000678724.1:c.540G>T	ENSP00000503874.1:p.Lys180Asn
ENST00000678920.1:n.773G>T
ENST00000679019.1:n.1312G>T
ENST00000679117.1:c.*430G>T	ENSP00000503240.1:n.*430G>T
ENST00000679339.1:n.1383G>T
ENST00000326739.8:c.615G>T	ENSP00000321584.4:p.Lys205Asn
ENST00000429182.5:c.409G>T
ENST00000442157.1:c.540G>T	ENSP00000403502.1:p.Lys180Asn
ENST00000462980.1:n.517G>T
ENST00000491610.1:n.502G>T
NM_000884.2:c.615G>T	NP_000875.2:p.Lys205Asn
XM_006713128.2:c.825G>T	XP_006713191.1:p.Lys275Asn
XM_006713128.3:c.825G>T	XP_006713191.1:p.Lys275Asn
XM_017006349.1:c.750G>T	XP_016861838.1:p.Lys250Asn
XM_017006350.1:c.750G>T	XP_016861839.1:p.Lys250Asn
NM_000884.3:c.615G>T MANE Select	NP_000875.2:p.Lys205Asn