Canonical Allele Identifier: CA433629693

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2688T>C	ENSP00000515567.1:p.Asp896=
ENST00000703937.1:c.*1749T>C	ENSP00000515568.1:n.*1749T>C
ENST00000326739.9:c.648T>C MANE Select	ENSP00000321584.4:p.Asp216=
ENST00000429182.6:c.648T>C	ENSP00000393525.2:p.Asp216=
ENST00000442157.2:c.573T>C	ENSP00000403502.2:p.Asp191=
ENST00000462980.2:n.1163T>C
ENST00000472328.2:n.714T>C
ENST00000491610.2:n.608T>C
ENST00000676607.1:n.944T>C
ENST00000676627.1:n.1378T>C
ENST00000676708.1:n.1928T>C
ENST00000676864.1:n.1797T>C
ENST00000677010.1:c.684T>C	ENSP00000503089.1:p.Asp228=
ENST00000677108.1:n.2554T>C
ENST00000677168.1:n.1120T>C
ENST00000677185.1:n.1211T>C
ENST00000677205.1:n.1432T>C
ENST00000677344.1:n.1922T>C
ENST00000677480.1:c.*325T>C	ENSP00000504378.1:n.*325T>C
ENST00000677519.1:n.1358T>C
ENST00000677593.1:n.1204T>C
ENST00000677740.1:n.2153T>C
ENST00000677991.1:n.1821T>C
ENST00000678001.1:n.1141T>C
ENST00000678085.1:n.1204T>C
ENST00000678177.1:n.2497T>C
ENST00000678603.1:n.1726T>C
ENST00000678724.1:c.573T>C	ENSP00000503874.1:p.Asp191=
ENST00000678920.1:n.806T>C
ENST00000679019.1:n.1418T>C
ENST00000679117.1:c.*463T>C	ENSP00000503240.1:n.*463T>C
ENST00000679339.1:n.1489T>C
ENST00000326739.8:c.648T>C	ENSP00000321584.4:p.Asp216=
ENST00000429182.5:c.442T>C
ENST00000442157.1:c.573T>C	ENSP00000403502.1:p.Asp191=
ENST00000462980.1:n.550T>C
ENST00000491610.1:n.608T>C
NM_000884.2:c.648T>C	NP_000875.2:p.Asp216=
XM_006713128.2:c.858T>C	XP_006713191.1:p.Asp286=
XM_006713128.3:c.858T>C	XP_006713191.1:p.Asp286=
XM_017006349.1:c.783T>C	XP_016861838.1:p.Asp261=
XM_017006350.1:c.783T>C	XP_016861839.1:p.Asp261=
NM_000884.3:c.648T>C MANE Select	NP_000875.2:p.Asp216=