Canonical Allele Identifier: CA352740879

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064281C>G (hg19) ; chr3:g.49026848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026848C>G , CM000665.2:g.49026848C>G	GRCh38
NC_000003.11:g.49064281C>G , CM000665.1:g.49064281C>G	GRCh37
NC_000003.10:g.49039285C>G	NCBI36
NG_012091.1:g.7595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2698G>C	ENSP00000515567.1:p.Ala900Pro
ENST00000703937.1:c.*1759G>C	ENSP00000515568.1:n.*1759G>C
ENST00000326739.9:c.658G>C MANE Select	ENSP00000321584.4:p.Ala220Pro
ENST00000429182.6:c.658G>C	ENSP00000393525.2:p.Ala220Pro
ENST00000442157.2:c.583G>C	ENSP00000403502.2:p.Ala195Pro
ENST00000462980.2:n.1173G>C
ENST00000472328.2:n.724G>C
ENST00000491610.2:n.618G>C
ENST00000676607.1:n.954G>C
ENST00000676627.1:n.1388G>C
ENST00000676708.1:n.1938G>C
ENST00000676864.1:n.1807G>C
ENST00000677010.1:c.694G>C	ENSP00000503089.1:p.Ala232Pro
ENST00000677108.1:n.2564G>C
ENST00000677168.1:n.1130G>C
ENST00000677185.1:n.1221G>C
ENST00000677205.1:n.1442G>C
ENST00000677344.1:n.1932G>C
ENST00000677480.1:c.*335G>C	ENSP00000504378.1:n.*335G>C
ENST00000677519.1:n.1368G>C
ENST00000677593.1:n.1214G>C
ENST00000677740.1:n.2163G>C
ENST00000677991.1:n.1831G>C
ENST00000678001.1:n.1151G>C
ENST00000678085.1:n.1214G>C
ENST00000678177.1:n.2507G>C
ENST00000678603.1:n.1736G>C
ENST00000678724.1:c.583G>C	ENSP00000503874.1:p.Ala195Pro
ENST00000678920.1:n.816G>C
ENST00000679019.1:n.1428G>C
ENST00000679117.1:c.*473G>C	ENSP00000503240.1:n.*473G>C
ENST00000679339.1:n.1499G>C
ENST00000326739.8:c.658G>C	ENSP00000321584.4:p.Ala220Pro
ENST00000429182.5:c.452G>C
ENST00000442157.1:c.583G>C	ENSP00000403502.1:p.Ala195Pro
ENST00000462980.1:n.560G>C
ENST00000491610.1:n.618G>C
NM_000884.2:c.658G>C	NP_000875.2:p.Ala220Pro
XM_006713128.2:c.868G>C	XP_006713191.1:p.Ala290Pro
XM_006713128.3:c.868G>C	XP_006713191.1:p.Ala290Pro
XM_017006349.1:c.793G>C	XP_016861838.1:p.Ala265Pro
XM_017006350.1:c.793G>C	XP_016861839.1:p.Ala265Pro
NM_000884.3:c.658G>C MANE Select	NP_000875.2:p.Ala220Pro