Canonical Allele Identifier: CA352740152

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026749-G-A
• MyVariant Identifiers: chr3:g.49064182G>A (hg19) ; chr3:g.49026749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026749G>A , CM000665.2:g.49026749G>A	GRCh38
NC_000003.11:g.49064182G>A , CM000665.1:g.49064182G>A	GRCh37
NC_000003.10:g.49039186G>A	NCBI36
NG_012091.1:g.7694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2797C>T	ENSP00000515567.1:p.His933Tyr
ENST00000703937.1:c.*1858C>T	ENSP00000515568.1:n.*1858C>T
ENST00000326739.9:c.757C>T MANE Select	ENSP00000321584.4:p.His253Tyr
ENST00000429182.6:c.757C>T	ENSP00000393525.2:p.His253Tyr
ENST00000442157.2:c.682C>T	ENSP00000403502.2:p.His228Tyr
ENST00000462980.2:n.1272C>T
ENST00000472328.2:n.823C>T
ENST00000491610.2:n.717C>T
ENST00000676607.1:n.1053C>T
ENST00000676627.1:n.1487C>T
ENST00000676708.1:n.2037C>T
ENST00000676864.1:n.1906C>T
ENST00000677010.1:c.793C>T	ENSP00000503089.1:p.His265Tyr
ENST00000677108.1:n.2663C>T
ENST00000677168.1:n.1229C>T
ENST00000677185.1:n.1320C>T
ENST00000677205.1:n.1541C>T
ENST00000677344.1:n.2031C>T
ENST00000677480.1:c.*434C>T	ENSP00000504378.1:n.*434C>T
ENST00000677519.1:n.1467C>T
ENST00000677593.1:n.1313C>T
ENST00000677740.1:n.2262C>T
ENST00000677991.1:n.1930C>T
ENST00000678001.1:n.1250C>T
ENST00000678085.1:n.1313C>T
ENST00000678177.1:n.2606C>T
ENST00000678603.1:n.1835C>T
ENST00000678724.1:c.682C>T	ENSP00000503874.1:p.His228Tyr
ENST00000678920.1:n.915C>T
ENST00000679019.1:n.1527C>T
ENST00000679117.1:c.*572C>T	ENSP00000503240.1:n.*572C>T
ENST00000679339.1:n.1598C>T
ENST00000326739.8:c.757C>T	ENSP00000321584.4:p.His253Tyr
ENST00000429182.5:c.551C>T
ENST00000442157.1:c.682C>T	ENSP00000403502.1:p.His228Tyr
ENST00000462980.1:n.659C>T
ENST00000491610.1:n.717C>T
NM_000884.2:c.757C>T	NP_000875.2:p.His253Tyr
XM_006713128.2:c.967C>T	XP_006713191.1:p.His323Tyr
XM_006713128.3:c.967C>T	XP_006713191.1:p.His323Tyr
XM_017006349.1:c.892C>T	XP_016861838.1:p.His298Tyr
XM_017006350.1:c.892C>T	XP_016861839.1:p.His298Tyr
NM_000884.3:c.757C>T MANE Select	NP_000875.2:p.His253Tyr