Canonical Allele Identifier: CA2390634

Gene: IMPDH2

Linked Data

• dbSNP Id: rs773000788
• ExAC: 3:49064307 A / G
• gnomAD v2: 3-49064307-A-G
• gnomAD v4: 3-49026874-A-G
• MyVariant Identifiers: chr3:g.49064307A>G (hg19) ; chr3:g.49026874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026874A>G , CM000665.2:g.49026874A>G	GRCh38
NC_000003.11:g.49064307A>G , CM000665.1:g.49064307A>G	GRCh37
NC_000003.10:g.49039311A>G	NCBI36
NG_012091.1:g.7569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2672T>C	ENSP00000515567.1:p.Ile891Thr
ENST00000703937.1:c.*1733T>C	ENSP00000515568.1:n.*1733T>C
ENST00000326739.9:c.632T>C MANE Select	ENSP00000321584.4:p.Ile211Thr
ENST00000429182.6:c.632T>C	ENSP00000393525.2:p.Ile211Thr
ENST00000442157.2:c.557T>C	ENSP00000403502.2:p.Ile186Thr
ENST00000462980.2:n.1147T>C
ENST00000472328.2:n.698T>C
ENST00000491610.2:n.592T>C
ENST00000676607.1:n.928T>C
ENST00000676627.1:n.1362T>C
ENST00000676708.1:n.1912T>C
ENST00000676864.1:n.1781T>C
ENST00000677010.1:c.668T>C	ENSP00000503089.1:p.Ile223Thr
ENST00000677108.1:n.2538T>C
ENST00000677168.1:n.1104T>C
ENST00000677185.1:n.1195T>C
ENST00000677205.1:n.1416T>C
ENST00000677344.1:n.1906T>C
ENST00000677480.1:c.*309T>C	ENSP00000504378.1:n.*309T>C
ENST00000677519.1:n.1342T>C
ENST00000677593.1:n.1188T>C
ENST00000677740.1:n.2137T>C
ENST00000677991.1:n.1805T>C
ENST00000678001.1:n.1125T>C
ENST00000678085.1:n.1188T>C
ENST00000678177.1:n.2481T>C
ENST00000678603.1:n.1710T>C
ENST00000678724.1:c.557T>C	ENSP00000503874.1:p.Ile186Thr
ENST00000678920.1:n.790T>C
ENST00000679019.1:n.1402T>C
ENST00000679117.1:c.*447T>C	ENSP00000503240.1:n.*447T>C
ENST00000679339.1:n.1473T>C
ENST00000326739.8:c.632T>C	ENSP00000321584.4:p.Ile211Thr
ENST00000429182.5:c.426T>C
ENST00000442157.1:c.557T>C	ENSP00000403502.1:p.Ile186Thr
ENST00000462980.1:n.534T>C
ENST00000491610.1:n.592T>C
NM_000884.2:c.632T>C	NP_000875.2:p.Ile211Thr
XM_006713128.2:c.842T>C	XP_006713191.1:p.Ile281Thr
XM_006713128.3:c.842T>C	XP_006713191.1:p.Ile281Thr
XM_017006349.1:c.767T>C	XP_016861838.1:p.Ile256Thr
XM_017006350.1:c.767T>C	XP_016861839.1:p.Ile256Thr
NM_000884.3:c.632T>C MANE Select	NP_000875.2:p.Ile211Thr