Canonical Allele Identifier: CA352739833

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064130A>C (hg19) ; chr3:g.49026697A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026697A>C , CM000665.2:g.49026697A>C	GRCh38
NC_000003.11:g.49064130A>C , CM000665.1:g.49064130A>C	GRCh37
NC_000003.10:g.49039134A>C	NCBI36
NG_012091.1:g.7746T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2849T>G	ENSP00000515567.1:p.Val950Gly
ENST00000703937.1:c.*1910T>G	ENSP00000515568.1:n.*1910T>G
ENST00000326739.9:c.809T>G MANE Select	ENSP00000321584.4:p.Val270Gly
ENST00000429182.6:c.809T>G	ENSP00000393525.2:p.Val270Gly
ENST00000442157.2:c.734T>G	ENSP00000403502.2:p.Val245Gly
ENST00000462980.2:n.1324T>G
ENST00000472328.2:n.875T>G
ENST00000491610.2:n.769T>G
ENST00000676607.1:n.1105T>G
ENST00000676627.1:n.1539T>G
ENST00000676708.1:n.2089T>G
ENST00000676864.1:n.1958T>G
ENST00000677010.1:c.845T>G	ENSP00000503089.1:p.Val282Gly
ENST00000677108.1:n.2715T>G
ENST00000677168.1:n.1281T>G
ENST00000677185.1:n.1372T>G
ENST00000677205.1:n.1593T>G
ENST00000677344.1:n.2083T>G
ENST00000677480.1:c.*486T>G	ENSP00000504378.1:n.*486T>G
ENST00000677519.1:n.1519T>G
ENST00000677593.1:n.1365T>G
ENST00000677740.1:n.2314T>G
ENST00000677991.1:n.1982T>G
ENST00000678001.1:n.1302T>G
ENST00000678085.1:n.1365T>G
ENST00000678177.1:n.2658T>G
ENST00000678603.1:n.1887T>G
ENST00000678724.1:c.734T>G	ENSP00000503874.1:p.Val245Gly
ENST00000678920.1:n.967T>G
ENST00000679019.1:n.1579T>G
ENST00000679117.1:c.*624T>G	ENSP00000503240.1:n.*624T>G
ENST00000679339.1:n.1650T>G
ENST00000326739.8:c.809T>G	ENSP00000321584.4:p.Val270Gly
ENST00000429182.5:c.603T>G
ENST00000442157.1:c.734T>G	ENSP00000403502.1:p.Val245Gly
ENST00000462980.1:n.711T>G
ENST00000491610.1:n.769T>G
NM_000884.2:c.809T>G	NP_000875.2:p.Val270Gly
XM_006713128.2:c.1019T>G	XP_006713191.1:p.Val340Gly
XM_006713128.3:c.1019T>G	XP_006713191.1:p.Val340Gly
XM_017006349.1:c.944T>G	XP_016861838.1:p.Val315Gly
XM_017006350.1:c.944T>G	XP_016861839.1:p.Val315Gly
NM_000884.3:c.809T>G MANE Select	NP_000875.2:p.Val270Gly