Canonical Allele Identifier: CA352739807

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026689-A-C
• MyVariant Identifiers: chr3:g.49064122A>C (hg19) ; chr3:g.49026689A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026689A>C , CM000665.2:g.49026689A>C	GRCh38
NC_000003.11:g.49064122A>C , CM000665.1:g.49064122A>C	GRCh37
NC_000003.10:g.49039126A>C	NCBI36
NG_012091.1:g.7754T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2857T>G	ENSP00000515567.1:p.Leu953Val
ENST00000703937.1:c.*1918T>G	ENSP00000515568.1:n.*1918T>G
ENST00000326739.9:c.817T>G MANE Select	ENSP00000321584.4:p.Leu273Val
ENST00000429182.6:c.817T>G	ENSP00000393525.2:p.Leu273Val
ENST00000442157.2:c.742T>G	ENSP00000403502.2:p.Leu248Val
ENST00000462980.2:n.1332T>G
ENST00000472328.2:n.883T>G
ENST00000491610.2:n.777T>G
ENST00000676607.1:n.1113T>G
ENST00000676627.1:n.1547T>G
ENST00000676708.1:n.2097T>G
ENST00000676864.1:n.1966T>G
ENST00000677010.1:c.853T>G	ENSP00000503089.1:p.Leu285Val
ENST00000677108.1:n.2723T>G
ENST00000677168.1:n.1289T>G
ENST00000677185.1:n.1380T>G
ENST00000677205.1:n.1601T>G
ENST00000677344.1:n.2091T>G
ENST00000677480.1:c.*494T>G	ENSP00000504378.1:n.*494T>G
ENST00000677519.1:n.1527T>G
ENST00000677593.1:n.1373T>G
ENST00000677740.1:n.2322T>G
ENST00000677991.1:n.1990T>G
ENST00000678001.1:n.1310T>G
ENST00000678085.1:n.1373T>G
ENST00000678177.1:n.2666T>G
ENST00000678603.1:n.1895T>G
ENST00000678724.1:c.742T>G	ENSP00000503874.1:p.Leu248Val
ENST00000678920.1:n.975T>G
ENST00000679019.1:n.1587T>G
ENST00000679117.1:c.*632T>G	ENSP00000503240.1:n.*632T>G
ENST00000679339.1:n.1658T>G
ENST00000326739.8:c.817T>G	ENSP00000321584.4:p.Leu273Val
ENST00000429182.5:c.611T>G
ENST00000442157.1:c.742T>G	ENSP00000403502.1:p.Leu248Val
ENST00000462980.1:n.719T>G
ENST00000491610.1:n.777T>G
NM_000884.2:c.817T>G	NP_000875.2:p.Leu273Val
XM_006713128.2:c.1027T>G	XP_006713191.1:p.Leu343Val
XM_006713128.3:c.1027T>G	XP_006713191.1:p.Leu343Val
XM_017006349.1:c.952T>G	XP_016861838.1:p.Leu318Val
XM_017006350.1:c.952T>G	XP_016861839.1:p.Leu318Val
NM_000884.3:c.817T>G MANE Select	NP_000875.2:p.Leu273Val