Canonical Allele Identifier: CA352740150

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064181T>G (hg19) ; chr3:g.49026748T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026748T>G , CM000665.2:g.49026748T>G	GRCh38
NC_000003.11:g.49064181T>G , CM000665.1:g.49064181T>G	GRCh37
NC_000003.10:g.49039185T>G	NCBI36
NG_012091.1:g.7695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2798A>C	ENSP00000515567.1:p.His933Pro
ENST00000703937.1:c.*1859A>C	ENSP00000515568.1:n.*1859A>C
ENST00000326739.9:c.758A>C MANE Select	ENSP00000321584.4:p.His253Pro
ENST00000429182.6:c.758A>C	ENSP00000393525.2:p.His253Pro
ENST00000442157.2:c.683A>C	ENSP00000403502.2:p.His228Pro
ENST00000462980.2:n.1273A>C
ENST00000472328.2:n.824A>C
ENST00000491610.2:n.718A>C
ENST00000676607.1:n.1054A>C
ENST00000676627.1:n.1488A>C
ENST00000676708.1:n.2038A>C
ENST00000676864.1:n.1907A>C
ENST00000677010.1:c.794A>C	ENSP00000503089.1:p.His265Pro
ENST00000677108.1:n.2664A>C
ENST00000677168.1:n.1230A>C
ENST00000677185.1:n.1321A>C
ENST00000677205.1:n.1542A>C
ENST00000677344.1:n.2032A>C
ENST00000677480.1:c.*435A>C	ENSP00000504378.1:n.*435A>C
ENST00000677519.1:n.1468A>C
ENST00000677593.1:n.1314A>C
ENST00000677740.1:n.2263A>C
ENST00000677991.1:n.1931A>C
ENST00000678001.1:n.1251A>C
ENST00000678085.1:n.1314A>C
ENST00000678177.1:n.2607A>C
ENST00000678603.1:n.1836A>C
ENST00000678724.1:c.683A>C	ENSP00000503874.1:p.His228Pro
ENST00000678920.1:n.916A>C
ENST00000679019.1:n.1528A>C
ENST00000679117.1:c.*573A>C	ENSP00000503240.1:n.*573A>C
ENST00000679339.1:n.1599A>C
ENST00000326739.8:c.758A>C	ENSP00000321584.4:p.His253Pro
ENST00000429182.5:c.552A>C
ENST00000442157.1:c.683A>C	ENSP00000403502.1:p.His228Pro
ENST00000462980.1:n.660A>C
ENST00000491610.1:n.718A>C
NM_000884.2:c.758A>C	NP_000875.2:p.His253Pro
XM_006713128.2:c.968A>C	XP_006713191.1:p.His323Pro
XM_006713128.3:c.968A>C	XP_006713191.1:p.His323Pro
XM_017006349.1:c.893A>C	XP_016861838.1:p.His298Pro
XM_017006350.1:c.893A>C	XP_016861839.1:p.His298Pro
NM_000884.3:c.758A>C MANE Select	NP_000875.2:p.His253Pro