Canonical Allele Identifier: CA352741843

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064429T>G (hg19) ; chr3:g.49026996T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026996T>G , CM000665.2:g.49026996T>G	GRCh38
NC_000003.11:g.49064429T>G , CM000665.1:g.49064429T>G	GRCh37
NC_000003.10:g.49039433T>G	NCBI36
NG_012091.1:g.7447A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2623A>C	ENSP00000515567.1:p.Lys875Gln
ENST00000703937.1:c.*1684A>C	ENSP00000515568.1:n.*1684A>C
ENST00000326739.9:c.583A>C MANE Select	ENSP00000321584.4:p.Lys195Gln
ENST00000429182.6:c.583A>C	ENSP00000393525.2:p.Lys195Gln
ENST00000442157.2:c.508A>C	ENSP00000403502.2:p.Lys170Gln
ENST00000462980.2:n.1098A>C
ENST00000472328.2:n.649A>C
ENST00000491610.2:n.470A>C
ENST00000676607.1:n.879A>C
ENST00000676627.1:n.1313A>C
ENST00000676708.1:n.1790A>C
ENST00000676864.1:n.1659A>C
ENST00000677010.1:c.619A>C	ENSP00000503089.1:p.Lys207Gln
ENST00000677108.1:n.2416A>C
ENST00000677168.1:n.1055A>C
ENST00000677185.1:n.1073A>C
ENST00000677205.1:n.1294A>C
ENST00000677344.1:n.1784A>C
ENST00000677480.1:c.*260A>C	ENSP00000504378.1:n.*260A>C
ENST00000677519.1:n.1293A>C
ENST00000677593.1:n.1066A>C
ENST00000677740.1:n.2015A>C
ENST00000677991.1:n.1756A>C
ENST00000678001.1:n.1076A>C
ENST00000678085.1:n.1066A>C
ENST00000678177.1:n.2359A>C
ENST00000678603.1:n.1661A>C
ENST00000678724.1:c.508A>C	ENSP00000503874.1:p.Lys170Gln
ENST00000678920.1:n.741A>C
ENST00000679019.1:n.1280A>C
ENST00000679117.1:c.*398A>C	ENSP00000503240.1:n.*398A>C
ENST00000679339.1:n.1351A>C
ENST00000326739.8:c.583A>C	ENSP00000321584.4:p.Lys195Gln
ENST00000429182.5:c.377A>C
ENST00000442157.1:c.508A>C	ENSP00000403502.1:p.Lys170Gln
ENST00000462980.1:n.485A>C
ENST00000491610.1:n.470A>C
NM_000884.2:c.583A>C	NP_000875.2:p.Lys195Gln
XM_006713128.2:c.793A>C	XP_006713191.1:p.Lys265Gln
XM_006713128.3:c.793A>C	XP_006713191.1:p.Lys265Gln
XM_017006349.1:c.718A>C	XP_016861838.1:p.Lys240Gln
XM_017006350.1:c.718A>C	XP_016861839.1:p.Lys240Gln
NM_000884.3:c.583A>C MANE Select	NP_000875.2:p.Lys195Gln