Canonical Allele Identifier: CA352741483

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064395T>G (hg19) ; chr3:g.49026962T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026962T>G , CM000665.2:g.49026962T>G	GRCh38
NC_000003.11:g.49064395T>G , CM000665.1:g.49064395T>G	GRCh37
NC_000003.10:g.49039399T>G	NCBI36
NG_012091.1:g.7481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2657A>C	ENSP00000515567.1:p.Lys886Thr
ENST00000703937.1:c.*1718A>C	ENSP00000515568.1:n.*1718A>C
ENST00000326739.9:c.617A>C MANE Select	ENSP00000321584.4:p.Lys206Thr
ENST00000429182.6:c.617A>C	ENSP00000393525.2:p.Lys206Thr
ENST00000442157.2:c.542A>C	ENSP00000403502.2:p.Lys181Thr
ENST00000462980.2:n.1132A>C
ENST00000472328.2:n.683A>C
ENST00000491610.2:n.504A>C
ENST00000676607.1:n.913A>C
ENST00000676627.1:n.1347A>C
ENST00000676708.1:n.1824A>C
ENST00000676864.1:n.1693A>C
ENST00000677010.1:c.653A>C	ENSP00000503089.1:p.Lys218Thr
ENST00000677108.1:n.2450A>C
ENST00000677168.1:n.1089A>C
ENST00000677185.1:n.1107A>C
ENST00000677205.1:n.1328A>C
ENST00000677344.1:n.1818A>C
ENST00000677480.1:c.*294A>C	ENSP00000504378.1:n.*294A>C
ENST00000677519.1:n.1327A>C
ENST00000677593.1:n.1100A>C
ENST00000677740.1:n.2049A>C
ENST00000677991.1:n.1790A>C
ENST00000678001.1:n.1110A>C
ENST00000678085.1:n.1100A>C
ENST00000678177.1:n.2393A>C
ENST00000678603.1:n.1695A>C
ENST00000678724.1:c.542A>C	ENSP00000503874.1:p.Lys181Thr
ENST00000678920.1:n.775A>C
ENST00000679019.1:n.1314A>C
ENST00000679117.1:c.*432A>C	ENSP00000503240.1:n.*432A>C
ENST00000679339.1:n.1385A>C
ENST00000326739.8:c.617A>C	ENSP00000321584.4:p.Lys206Thr
ENST00000429182.5:c.411A>C
ENST00000442157.1:c.542A>C	ENSP00000403502.1:p.Lys181Thr
ENST00000462980.1:n.519A>C
ENST00000491610.1:n.504A>C
NM_000884.2:c.617A>C	NP_000875.2:p.Lys206Thr
XM_006713128.2:c.827A>C	XP_006713191.1:p.Lys276Thr
XM_006713128.3:c.827A>C	XP_006713191.1:p.Lys276Thr
XM_017006349.1:c.752A>C	XP_016861838.1:p.Lys251Thr
XM_017006350.1:c.752A>C	XP_016861839.1:p.Lys251Thr
NM_000884.3:c.617A>C MANE Select	NP_000875.2:p.Lys206Thr