Canonical Allele Identifier: CA352740948

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026858-A-C
• MyVariant Identifiers: chr3:g.49064291A>C (hg19) ; chr3:g.49026858A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026858A>C , CM000665.2:g.49026858A>C	GRCh38
NC_000003.11:g.49064291A>C , CM000665.1:g.49064291A>C	GRCh37
NC_000003.10:g.49039295A>C	NCBI36
NG_012091.1:g.7585T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2688T>G	ENSP00000515567.1:p.Asp896Glu
ENST00000703937.1:c.*1749T>G	ENSP00000515568.1:n.*1749T>G
ENST00000326739.9:c.648T>G MANE Select	ENSP00000321584.4:p.Asp216Glu
ENST00000429182.6:c.648T>G	ENSP00000393525.2:p.Asp216Glu
ENST00000442157.2:c.573T>G	ENSP00000403502.2:p.Asp191Glu
ENST00000462980.2:n.1163T>G
ENST00000472328.2:n.714T>G
ENST00000491610.2:n.608T>G
ENST00000676607.1:n.944T>G
ENST00000676627.1:n.1378T>G
ENST00000676708.1:n.1928T>G
ENST00000676864.1:n.1797T>G
ENST00000677010.1:c.684T>G	ENSP00000503089.1:p.Asp228Glu
ENST00000677108.1:n.2554T>G
ENST00000677168.1:n.1120T>G
ENST00000677185.1:n.1211T>G
ENST00000677205.1:n.1432T>G
ENST00000677344.1:n.1922T>G
ENST00000677480.1:c.*325T>G	ENSP00000504378.1:n.*325T>G
ENST00000677519.1:n.1358T>G
ENST00000677593.1:n.1204T>G
ENST00000677740.1:n.2153T>G
ENST00000677991.1:n.1821T>G
ENST00000678001.1:n.1141T>G
ENST00000678085.1:n.1204T>G
ENST00000678177.1:n.2497T>G
ENST00000678603.1:n.1726T>G
ENST00000678724.1:c.573T>G	ENSP00000503874.1:p.Asp191Glu
ENST00000678920.1:n.806T>G
ENST00000679019.1:n.1418T>G
ENST00000679117.1:c.*463T>G	ENSP00000503240.1:n.*463T>G
ENST00000679339.1:n.1489T>G
ENST00000326739.8:c.648T>G	ENSP00000321584.4:p.Asp216Glu
ENST00000429182.5:c.442T>G
ENST00000442157.1:c.573T>G	ENSP00000403502.1:p.Asp191Glu
ENST00000462980.1:n.550T>G
ENST00000491610.1:n.608T>G
NM_000884.2:c.648T>G	NP_000875.2:p.Asp216Glu
XM_006713128.2:c.858T>G	XP_006713191.1:p.Asp286Glu
XM_006713128.3:c.858T>G	XP_006713191.1:p.Asp286Glu
XM_017006349.1:c.783T>G	XP_016861838.1:p.Asp261Glu
XM_017006350.1:c.783T>G	XP_016861839.1:p.Asp261Glu
NM_000884.3:c.648T>G MANE Select	NP_000875.2:p.Asp216Glu