Canonical Allele Identifier: CA433629394

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064123A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026690A>C , CM000665.2:g.49026690A>C	GRCh38
NC_000003.11:g.49064123A>C , CM000665.1:g.49064123A>C	GRCh37
NC_000003.10:g.49039127A>C	NCBI36
NG_012091.1:g.7753T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2856T>G	ENSP00000515567.1:p.Val952=
ENST00000703937.1:c.*1917T>G	ENSP00000515568.1:n.*1917T>G
ENST00000326739.9:c.816T>G MANE Select	ENSP00000321584.4:p.Val272=
ENST00000429182.6:c.816T>G	ENSP00000393525.2:p.Val272=
ENST00000442157.2:c.741T>G	ENSP00000403502.2:p.Val247=
ENST00000462980.2:n.1331T>G
ENST00000472328.2:n.882T>G
ENST00000491610.2:n.776T>G
ENST00000676607.1:n.1112T>G
ENST00000676627.1:n.1546T>G
ENST00000676708.1:n.2096T>G
ENST00000676864.1:n.1965T>G
ENST00000677010.1:c.852T>G	ENSP00000503089.1:p.Val284=
ENST00000677108.1:n.2722T>G
ENST00000677168.1:n.1288T>G
ENST00000677185.1:n.1379T>G
ENST00000677205.1:n.1600T>G
ENST00000677344.1:n.2090T>G
ENST00000677480.1:c.*493T>G	ENSP00000504378.1:n.*493T>G
ENST00000677519.1:n.1526T>G
ENST00000677593.1:n.1372T>G
ENST00000677740.1:n.2321T>G
ENST00000677991.1:n.1989T>G
ENST00000678001.1:n.1309T>G
ENST00000678085.1:n.1372T>G
ENST00000678177.1:n.2665T>G
ENST00000678603.1:n.1894T>G
ENST00000678724.1:c.741T>G	ENSP00000503874.1:p.Val247=
ENST00000678920.1:n.974T>G
ENST00000679019.1:n.1586T>G
ENST00000679117.1:c.*631T>G	ENSP00000503240.1:n.*631T>G
ENST00000679339.1:n.1657T>G
ENST00000326739.8:c.816T>G	ENSP00000321584.4:p.Val272=
ENST00000429182.5:c.610T>G
ENST00000442157.1:c.741T>G	ENSP00000403502.1:p.Val247=
ENST00000462980.1:n.718T>G
ENST00000491610.1:n.776T>G
NM_000884.2:c.816T>G	NP_000875.2:p.Val272=
XM_006713128.2:c.1026T>G	XP_006713191.1:p.Val342=
XM_006713128.3:c.1026T>G	XP_006713191.1:p.Val342=
XM_017006349.1:c.951T>G	XP_016861838.1:p.Val317=
XM_017006350.1:c.951T>G	XP_016861839.1:p.Val317=
NM_000884.3:c.816T>G MANE Select	NP_000875.2:p.Val272=