Canonical Allele Identifier: CA352740347

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064212G>A (hg19) ; chr3:g.49026779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026779G>A , CM000665.2:g.49026779G>A	GRCh38
NC_000003.11:g.49064212G>A , CM000665.1:g.49064212G>A	GRCh37
NC_000003.10:g.49039216G>A	NCBI36
NG_012091.1:g.7664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2767C>T	ENSP00000515567.1:p.Gln923Ter
ENST00000703937.1:c.*1828C>T	ENSP00000515568.1:n.*1828C>T
ENST00000326739.9:c.727C>T MANE Select	ENSP00000321584.4:p.Gln243Ter
ENST00000429182.6:c.727C>T	ENSP00000393525.2:p.Gln243Ter
ENST00000442157.2:c.652C>T	ENSP00000403502.2:p.Gln218Ter
ENST00000462980.2:n.1242C>T
ENST00000472328.2:n.793C>T
ENST00000491610.2:n.687C>T
ENST00000676607.1:n.1023C>T
ENST00000676627.1:n.1457C>T
ENST00000676708.1:n.2007C>T
ENST00000676864.1:n.1876C>T
ENST00000677010.1:c.763C>T	ENSP00000503089.1:p.Gln255Ter
ENST00000677108.1:n.2633C>T
ENST00000677168.1:n.1199C>T
ENST00000677185.1:n.1290C>T
ENST00000677205.1:n.1511C>T
ENST00000677344.1:n.2001C>T
ENST00000677480.1:c.*404C>T	ENSP00000504378.1:n.*404C>T
ENST00000677519.1:n.1437C>T
ENST00000677593.1:n.1283C>T
ENST00000677740.1:n.2232C>T
ENST00000677991.1:n.1900C>T
ENST00000678001.1:n.1220C>T
ENST00000678085.1:n.1283C>T
ENST00000678177.1:n.2576C>T
ENST00000678603.1:n.1805C>T
ENST00000678724.1:c.652C>T	ENSP00000503874.1:p.Gln218Ter
ENST00000678920.1:n.885C>T
ENST00000679019.1:n.1497C>T
ENST00000679117.1:c.*542C>T	ENSP00000503240.1:n.*542C>T
ENST00000679339.1:n.1568C>T
ENST00000326739.8:c.727C>T	ENSP00000321584.4:p.Gln243Ter
ENST00000429182.5:c.521C>T
ENST00000442157.1:c.652C>T	ENSP00000403502.1:p.Gln218Ter
ENST00000462980.1:n.629C>T
ENST00000491610.1:n.687C>T
NM_000884.2:c.727C>T	NP_000875.2:p.Gln243Ter
XM_006713128.2:c.937C>T	XP_006713191.1:p.Gln313Ter
XM_006713128.3:c.937C>T	XP_006713191.1:p.Gln313Ter
XM_017006349.1:c.862C>T	XP_016861838.1:p.Gln288Ter
XM_017006350.1:c.862C>T	XP_016861839.1:p.Gln288Ter
NM_000884.3:c.727C>T MANE Select	NP_000875.2:p.Gln243Ter