Canonical Allele Identifier: CA433629580

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026795-G-A
• MyVariant Identifiers: chr3:g.49064228G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026795G>A , CM000665.2:g.49026795G>A	GRCh38
NC_000003.11:g.49064228G>A , CM000665.1:g.49064228G>A	GRCh37
NC_000003.10:g.49039232G>A	NCBI36
NG_012091.1:g.7648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2751C>T	ENSP00000515567.1:p.Ser917=
ENST00000703937.1:c.*1812C>T	ENSP00000515568.1:n.*1812C>T
ENST00000326739.9:c.711C>T MANE Select	ENSP00000321584.4:p.Ser237=
ENST00000429182.6:c.711C>T	ENSP00000393525.2:p.Ser237=
ENST00000442157.2:c.636C>T	ENSP00000403502.2:p.Ser212=
ENST00000462980.2:n.1226C>T
ENST00000472328.2:n.777C>T
ENST00000491610.2:n.671C>T
ENST00000676607.1:n.1007C>T
ENST00000676627.1:n.1441C>T
ENST00000676708.1:n.1991C>T
ENST00000676864.1:n.1860C>T
ENST00000677010.1:c.747C>T	ENSP00000503089.1:p.Ser249=
ENST00000677108.1:n.2617C>T
ENST00000677168.1:n.1183C>T
ENST00000677185.1:n.1274C>T
ENST00000677205.1:n.1495C>T
ENST00000677344.1:n.1985C>T
ENST00000677480.1:c.*388C>T	ENSP00000504378.1:n.*388C>T
ENST00000677519.1:n.1421C>T
ENST00000677593.1:n.1267C>T
ENST00000677740.1:n.2216C>T
ENST00000677991.1:n.1884C>T
ENST00000678001.1:n.1204C>T
ENST00000678085.1:n.1267C>T
ENST00000678177.1:n.2560C>T
ENST00000678603.1:n.1789C>T
ENST00000678724.1:c.636C>T	ENSP00000503874.1:p.Ser212=
ENST00000678920.1:n.869C>T
ENST00000679019.1:n.1481C>T
ENST00000679117.1:c.*526C>T	ENSP00000503240.1:n.*526C>T
ENST00000679339.1:n.1552C>T
ENST00000326739.8:c.711C>T	ENSP00000321584.4:p.Ser237=
ENST00000429182.5:c.505C>T
ENST00000442157.1:c.636C>T	ENSP00000403502.1:p.Ser212=
ENST00000462980.1:n.613C>T
ENST00000491610.1:n.671C>T
NM_000884.2:c.711C>T	NP_000875.2:p.Ser237=
XM_006713128.2:c.921C>T	XP_006713191.1:p.Ser307=
XM_006713128.3:c.921C>T	XP_006713191.1:p.Ser307=
XM_017006349.1:c.846C>T	XP_016861838.1:p.Ser282=
XM_017006350.1:c.846C>T	XP_016861839.1:p.Ser282=
NM_000884.3:c.711C>T MANE Select	NP_000875.2:p.Ser237=