Canonical Allele Identifier: CA352740978

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026861-A-C
• MyVariant Identifiers: chr3:g.49064294A>C (hg19) ; chr3:g.49026861A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026861A>C , CM000665.2:g.49026861A>C	GRCh38
NC_000003.11:g.49064294A>C , CM000665.1:g.49064294A>C	GRCh37
NC_000003.10:g.49039298A>C	NCBI36
NG_012091.1:g.7582T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2685T>G	ENSP00000515567.1:p.Asp895Glu
ENST00000703937.1:c.*1746T>G	ENSP00000515568.1:n.*1746T>G
ENST00000326739.9:c.645T>G MANE Select	ENSP00000321584.4:p.Asp215Glu
ENST00000429182.6:c.645T>G	ENSP00000393525.2:p.Asp215Glu
ENST00000442157.2:c.570T>G	ENSP00000403502.2:p.Asp190Glu
ENST00000462980.2:n.1160T>G
ENST00000472328.2:n.711T>G
ENST00000491610.2:n.605T>G
ENST00000676607.1:n.941T>G
ENST00000676627.1:n.1375T>G
ENST00000676708.1:n.1925T>G
ENST00000676864.1:n.1794T>G
ENST00000677010.1:c.681T>G	ENSP00000503089.1:p.Asp227Glu
ENST00000677108.1:n.2551T>G
ENST00000677168.1:n.1117T>G
ENST00000677185.1:n.1208T>G
ENST00000677205.1:n.1429T>G
ENST00000677344.1:n.1919T>G
ENST00000677480.1:c.*322T>G	ENSP00000504378.1:n.*322T>G
ENST00000677519.1:n.1355T>G
ENST00000677593.1:n.1201T>G
ENST00000677740.1:n.2150T>G
ENST00000677991.1:n.1818T>G
ENST00000678001.1:n.1138T>G
ENST00000678085.1:n.1201T>G
ENST00000678177.1:n.2494T>G
ENST00000678603.1:n.1723T>G
ENST00000678724.1:c.570T>G	ENSP00000503874.1:p.Asp190Glu
ENST00000678920.1:n.803T>G
ENST00000679019.1:n.1415T>G
ENST00000679117.1:c.*460T>G	ENSP00000503240.1:n.*460T>G
ENST00000679339.1:n.1486T>G
ENST00000326739.8:c.645T>G	ENSP00000321584.4:p.Asp215Glu
ENST00000429182.5:c.439T>G
ENST00000442157.1:c.570T>G	ENSP00000403502.1:p.Asp190Glu
ENST00000462980.1:n.547T>G
ENST00000491610.1:n.605T>G
NM_000884.2:c.645T>G	NP_000875.2:p.Asp215Glu
XM_006713128.2:c.855T>G	XP_006713191.1:p.Asp285Glu
XM_006713128.3:c.855T>G	XP_006713191.1:p.Asp285Glu
XM_017006349.1:c.780T>G	XP_016861838.1:p.Asp260Glu
XM_017006350.1:c.780T>G	XP_016861839.1:p.Asp260Glu
NM_000884.3:c.645T>G MANE Select	NP_000875.2:p.Asp215Glu