Canonical Allele Identifier: CA352740146

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2798A>T	ENSP00000515567.1:p.His933Leu
ENST00000703937.1:c.*1859A>T	ENSP00000515568.1:n.*1859A>T
ENST00000326739.9:c.758A>T MANE Select	ENSP00000321584.4:p.His253Leu
ENST00000429182.6:c.758A>T	ENSP00000393525.2:p.His253Leu
ENST00000442157.2:c.683A>T	ENSP00000403502.2:p.His228Leu
ENST00000462980.2:n.1273A>T
ENST00000472328.2:n.824A>T
ENST00000491610.2:n.718A>T
ENST00000676607.1:n.1054A>T
ENST00000676627.1:n.1488A>T
ENST00000676708.1:n.2038A>T
ENST00000676864.1:n.1907A>T
ENST00000677010.1:c.794A>T	ENSP00000503089.1:p.His265Leu
ENST00000677108.1:n.2664A>T
ENST00000677168.1:n.1230A>T
ENST00000677185.1:n.1321A>T
ENST00000677205.1:n.1542A>T
ENST00000677344.1:n.2032A>T
ENST00000677480.1:c.*435A>T	ENSP00000504378.1:n.*435A>T
ENST00000677519.1:n.1468A>T
ENST00000677593.1:n.1314A>T
ENST00000677740.1:n.2263A>T
ENST00000677991.1:n.1931A>T
ENST00000678001.1:n.1251A>T
ENST00000678085.1:n.1314A>T
ENST00000678177.1:n.2607A>T
ENST00000678603.1:n.1836A>T
ENST00000678724.1:c.683A>T	ENSP00000503874.1:p.His228Leu
ENST00000678920.1:n.916A>T
ENST00000679019.1:n.1528A>T
ENST00000679117.1:c.*573A>T	ENSP00000503240.1:n.*573A>T
ENST00000679339.1:n.1599A>T
ENST00000326739.8:c.758A>T	ENSP00000321584.4:p.His253Leu
ENST00000429182.5:c.552A>T
ENST00000442157.1:c.683A>T	ENSP00000403502.1:p.His228Leu
ENST00000462980.1:n.660A>T
ENST00000491610.1:n.718A>T
NM_000884.2:c.758A>T	NP_000875.2:p.His253Leu
XM_006713128.2:c.968A>T	XP_006713191.1:p.His323Leu
XM_006713128.3:c.968A>T	XP_006713191.1:p.His323Leu
XM_017006349.1:c.893A>T	XP_016861838.1:p.His298Leu
XM_017006350.1:c.893A>T	XP_016861839.1:p.His298Leu
NM_000884.3:c.758A>T MANE Select	NP_000875.2:p.His253Leu