Canonical Allele Identifier: CA352741499

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064396T>G (hg19) ; chr3:g.49026963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026963T>G , CM000665.2:g.49026963T>G	GRCh38
NC_000003.11:g.49064396T>G , CM000665.1:g.49064396T>G	GRCh37
NC_000003.10:g.49039400T>G	NCBI36
NG_012091.1:g.7480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2656A>C	ENSP00000515567.1:p.Lys886Gln
ENST00000703937.1:c.*1717A>C	ENSP00000515568.1:n.*1717A>C
ENST00000326739.9:c.616A>C MANE Select	ENSP00000321584.4:p.Lys206Gln
ENST00000429182.6:c.616A>C	ENSP00000393525.2:p.Lys206Gln
ENST00000442157.2:c.541A>C	ENSP00000403502.2:p.Lys181Gln
ENST00000462980.2:n.1131A>C
ENST00000472328.2:n.682A>C
ENST00000491610.2:n.503A>C
ENST00000676607.1:n.912A>C
ENST00000676627.1:n.1346A>C
ENST00000676708.1:n.1823A>C
ENST00000676864.1:n.1692A>C
ENST00000677010.1:c.652A>C	ENSP00000503089.1:p.Lys218Gln
ENST00000677108.1:n.2449A>C
ENST00000677168.1:n.1088A>C
ENST00000677185.1:n.1106A>C
ENST00000677205.1:n.1327A>C
ENST00000677344.1:n.1817A>C
ENST00000677480.1:c.*293A>C	ENSP00000504378.1:n.*293A>C
ENST00000677519.1:n.1326A>C
ENST00000677593.1:n.1099A>C
ENST00000677740.1:n.2048A>C
ENST00000677991.1:n.1789A>C
ENST00000678001.1:n.1109A>C
ENST00000678085.1:n.1099A>C
ENST00000678177.1:n.2392A>C
ENST00000678603.1:n.1694A>C
ENST00000678724.1:c.541A>C	ENSP00000503874.1:p.Lys181Gln
ENST00000678920.1:n.774A>C
ENST00000679019.1:n.1313A>C
ENST00000679117.1:c.*431A>C	ENSP00000503240.1:n.*431A>C
ENST00000679339.1:n.1384A>C
ENST00000326739.8:c.616A>C	ENSP00000321584.4:p.Lys206Gln
ENST00000429182.5:c.410A>C
ENST00000442157.1:c.541A>C	ENSP00000403502.1:p.Lys181Gln
ENST00000462980.1:n.518A>C
ENST00000491610.1:n.503A>C
NM_000884.2:c.616A>C	NP_000875.2:p.Lys206Gln
XM_006713128.2:c.826A>C	XP_006713191.1:p.Lys276Gln
XM_006713128.3:c.826A>C	XP_006713191.1:p.Lys276Gln
XM_017006349.1:c.751A>C	XP_016861838.1:p.Lys251Gln
XM_017006350.1:c.751A>C	XP_016861839.1:p.Lys251Gln
NM_000884.3:c.616A>C MANE Select	NP_000875.2:p.Lys206Gln