Canonical Allele Identifier: CA352741553

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064401C>A (hg19) ; chr3:g.49026968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026968C>A , CM000665.2:g.49026968C>A	GRCh38
NC_000003.11:g.49064401C>A , CM000665.1:g.49064401C>A	GRCh37
NC_000003.10:g.49039405C>A	NCBI36
NG_012091.1:g.7475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2651G>T	ENSP00000515567.1:p.Ser884Ile
ENST00000703937.1:c.*1712G>T	ENSP00000515568.1:n.*1712G>T
ENST00000326739.9:c.611G>T MANE Select	ENSP00000321584.4:p.Ser204Ile
ENST00000429182.6:c.611G>T	ENSP00000393525.2:p.Ser204Ile
ENST00000442157.2:c.536G>T	ENSP00000403502.2:p.Ser179Ile
ENST00000462980.2:n.1126G>T
ENST00000472328.2:n.677G>T
ENST00000491610.2:n.498G>T
ENST00000676607.1:n.907G>T
ENST00000676627.1:n.1341G>T
ENST00000676708.1:n.1818G>T
ENST00000676864.1:n.1687G>T
ENST00000677010.1:c.647G>T	ENSP00000503089.1:p.Ser216Ile
ENST00000677108.1:n.2444G>T
ENST00000677168.1:n.1083G>T
ENST00000677185.1:n.1101G>T
ENST00000677205.1:n.1322G>T
ENST00000677344.1:n.1812G>T
ENST00000677480.1:c.*288G>T	ENSP00000504378.1:n.*288G>T
ENST00000677519.1:n.1321G>T
ENST00000677593.1:n.1094G>T
ENST00000677740.1:n.2043G>T
ENST00000677991.1:n.1784G>T
ENST00000678001.1:n.1104G>T
ENST00000678085.1:n.1094G>T
ENST00000678177.1:n.2387G>T
ENST00000678603.1:n.1689G>T
ENST00000678724.1:c.536G>T	ENSP00000503874.1:p.Ser179Ile
ENST00000678920.1:n.769G>T
ENST00000679019.1:n.1308G>T
ENST00000679117.1:c.*426G>T	ENSP00000503240.1:n.*426G>T
ENST00000679339.1:n.1379G>T
ENST00000326739.8:c.611G>T	ENSP00000321584.4:p.Ser204Ile
ENST00000429182.5:c.405G>T
ENST00000442157.1:c.536G>T	ENSP00000403502.1:p.Ser179Ile
ENST00000462980.1:n.513G>T
ENST00000491610.1:n.498G>T
NM_000884.2:c.611G>T	NP_000875.2:p.Ser204Ile
XM_006713128.2:c.821G>T	XP_006713191.1:p.Ser274Ile
XM_006713128.3:c.821G>T	XP_006713191.1:p.Ser274Ile
XM_017006349.1:c.746G>T	XP_016861838.1:p.Ser249Ile
XM_017006350.1:c.746G>T	XP_016861839.1:p.Ser249Ile
NM_000884.3:c.611G>T MANE Select	NP_000875.2:p.Ser204Ile