Canonical Allele Identifier: CA352739548

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026580-C-G
• MyVariant Identifiers: chr3:g.49064013C>G (hg19) ; chr3:g.49026580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026580C>G , CM000665.2:g.49026580C>G	GRCh38
NC_000003.11:g.49064013C>G , CM000665.1:g.49064013C>G	GRCh37
NC_000003.10:g.49039017C>G	NCBI36
NG_012091.1:g.7863G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2889G>C	ENSP00000515567.1:p.Gln963His
ENST00000703937.1:c.*1950G>C	ENSP00000515568.1:n.*1950G>C
ENST00000326739.9:c.849G>C MANE Select	ENSP00000321584.4:p.Gln283His
ENST00000429182.6:c.849G>C	ENSP00000393525.2:p.Gln283His
ENST00000442157.2:c.774G>C	ENSP00000403502.2:p.Gln258His
ENST00000462980.2:n.1364G>C
ENST00000472328.2:n.915G>C
ENST00000491610.2:n.809G>C
ENST00000676607.1:n.1145G>C
ENST00000676627.1:n.1579G>C
ENST00000676708.1:n.2129G>C
ENST00000676864.1:n.1998G>C
ENST00000677010.1:c.873G>C	ENSP00000503089.1:p.Gln291His
ENST00000677108.1:n.2832G>C
ENST00000677168.1:n.1321G>C
ENST00000677185.1:n.1412G>C
ENST00000677205.1:n.1633G>C
ENST00000677344.1:n.2123G>C
ENST00000677480.1:c.*526G>C	ENSP00000504378.1:n.*526G>C
ENST00000677519.1:n.1559G>C
ENST00000677593.1:n.1405G>C
ENST00000677740.1:n.2354G>C
ENST00000677991.1:n.2022G>C
ENST00000678001.1:n.1342G>C
ENST00000678085.1:n.1482G>C
ENST00000678177.1:n.2775G>C
ENST00000678603.1:n.1927G>C
ENST00000678724.1:c.774G>C	ENSP00000503874.1:p.Gln258His
ENST00000678920.1:n.1007G>C
ENST00000679019.1:n.1696G>C
ENST00000679117.1:c.*664G>C	ENSP00000503240.1:n.*664G>C
ENST00000679339.1:n.1690G>C
ENST00000326739.8:c.849G>C	ENSP00000321584.4:p.Gln283His
ENST00000429182.5:c.643G>C
ENST00000442157.1:c.774G>C	ENSP00000403502.1:p.Gln258His
ENST00000462980.1:n.751G>C
ENST00000491610.1:n.809G>C
NM_000884.2:c.849G>C	NP_000875.2:p.Gln283His
XM_006713128.2:c.1059G>C	XP_006713191.1:p.Gln353His
XM_006713128.3:c.1059G>C	XP_006713191.1:p.Gln353His
XM_017006349.1:c.984G>C	XP_016861838.1:p.Gln328His
XM_017006350.1:c.984G>C	XP_016861839.1:p.Gln328His
NM_000884.3:c.849G>C MANE Select	NP_000875.2:p.Gln283His