Canonical Allele Identifier: CA352741774

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064426C>G (hg19) ; chr3:g.49026993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026993C>G , CM000665.2:g.49026993C>G	GRCh38
NC_000003.11:g.49064426C>G , CM000665.1:g.49064426C>G	GRCh37
NC_000003.10:g.49039430C>G	NCBI36
NG_012091.1:g.7450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2626G>C	ENSP00000515567.1:p.Glu876Gln
ENST00000703937.1:c.*1687G>C	ENSP00000515568.1:n.*1687G>C
ENST00000326739.9:c.586G>C MANE Select	ENSP00000321584.4:p.Glu196Gln
ENST00000429182.6:c.586G>C	ENSP00000393525.2:p.Glu196Gln
ENST00000442157.2:c.511G>C	ENSP00000403502.2:p.Glu171Gln
ENST00000462980.2:n.1101G>C
ENST00000472328.2:n.652G>C
ENST00000491610.2:n.473G>C
ENST00000676607.1:n.882G>C
ENST00000676627.1:n.1316G>C
ENST00000676708.1:n.1793G>C
ENST00000676864.1:n.1662G>C
ENST00000677010.1:c.622G>C	ENSP00000503089.1:p.Glu208Gln
ENST00000677108.1:n.2419G>C
ENST00000677168.1:n.1058G>C
ENST00000677185.1:n.1076G>C
ENST00000677205.1:n.1297G>C
ENST00000677344.1:n.1787G>C
ENST00000677480.1:c.*263G>C	ENSP00000504378.1:n.*263G>C
ENST00000677519.1:n.1296G>C
ENST00000677593.1:n.1069G>C
ENST00000677740.1:n.2018G>C
ENST00000677991.1:n.1759G>C
ENST00000678001.1:n.1079G>C
ENST00000678085.1:n.1069G>C
ENST00000678177.1:n.2362G>C
ENST00000678603.1:n.1664G>C
ENST00000678724.1:c.511G>C	ENSP00000503874.1:p.Glu171Gln
ENST00000678920.1:n.744G>C
ENST00000679019.1:n.1283G>C
ENST00000679117.1:c.*401G>C	ENSP00000503240.1:n.*401G>C
ENST00000679339.1:n.1354G>C
ENST00000326739.8:c.586G>C	ENSP00000321584.4:p.Glu196Gln
ENST00000429182.5:c.380G>C
ENST00000442157.1:c.511G>C	ENSP00000403502.1:p.Glu171Gln
ENST00000462980.1:n.488G>C
ENST00000491610.1:n.473G>C
NM_000884.2:c.586G>C	NP_000875.2:p.Glu196Gln
XM_006713128.2:c.796G>C	XP_006713191.1:p.Glu266Gln
XM_006713128.3:c.796G>C	XP_006713191.1:p.Glu266Gln
XM_017006349.1:c.721G>C	XP_016861838.1:p.Glu241Gln
XM_017006350.1:c.721G>C	XP_016861839.1:p.Glu241Gln
NM_000884.3:c.586G>C MANE Select	NP_000875.2:p.Glu196Gln