Canonical Allele Identifier: CA352740309

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064205A>C (hg19) ; chr3:g.49026772A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026772A>C , CM000665.2:g.49026772A>C	GRCh38
NC_000003.11:g.49064205A>C , CM000665.1:g.49064205A>C	GRCh37
NC_000003.10:g.49039209A>C	NCBI36
NG_012091.1:g.7671T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2774T>G	ENSP00000515567.1:p.Leu925Arg
ENST00000703937.1:c.*1835T>G	ENSP00000515568.1:n.*1835T>G
ENST00000326739.9:c.734T>G MANE Select	ENSP00000321584.4:p.Leu245Arg
ENST00000429182.6:c.734T>G	ENSP00000393525.2:p.Leu245Arg
ENST00000442157.2:c.659T>G	ENSP00000403502.2:p.Leu220Arg
ENST00000462980.2:n.1249T>G
ENST00000472328.2:n.800T>G
ENST00000491610.2:n.694T>G
ENST00000676607.1:n.1030T>G
ENST00000676627.1:n.1464T>G
ENST00000676708.1:n.2014T>G
ENST00000676864.1:n.1883T>G
ENST00000677010.1:c.770T>G	ENSP00000503089.1:p.Leu257Arg
ENST00000677108.1:n.2640T>G
ENST00000677168.1:n.1206T>G
ENST00000677185.1:n.1297T>G
ENST00000677205.1:n.1518T>G
ENST00000677344.1:n.2008T>G
ENST00000677480.1:c.*411T>G	ENSP00000504378.1:n.*411T>G
ENST00000677519.1:n.1444T>G
ENST00000677593.1:n.1290T>G
ENST00000677740.1:n.2239T>G
ENST00000677991.1:n.1907T>G
ENST00000678001.1:n.1227T>G
ENST00000678085.1:n.1290T>G
ENST00000678177.1:n.2583T>G
ENST00000678603.1:n.1812T>G
ENST00000678724.1:c.659T>G	ENSP00000503874.1:p.Leu220Arg
ENST00000678920.1:n.892T>G
ENST00000679019.1:n.1504T>G
ENST00000679117.1:c.*549T>G	ENSP00000503240.1:n.*549T>G
ENST00000679339.1:n.1575T>G
ENST00000326739.8:c.734T>G	ENSP00000321584.4:p.Leu245Arg
ENST00000429182.5:c.528T>G
ENST00000442157.1:c.659T>G	ENSP00000403502.1:p.Leu220Arg
ENST00000462980.1:n.636T>G
ENST00000491610.1:n.694T>G
NM_000884.2:c.734T>G	NP_000875.2:p.Leu245Arg
XM_006713128.2:c.944T>G	XP_006713191.1:p.Leu315Arg
XM_006713128.3:c.944T>G	XP_006713191.1:p.Leu315Arg
XM_017006349.1:c.869T>G	XP_016861838.1:p.Leu290Arg
XM_017006350.1:c.869T>G	XP_016861839.1:p.Leu290Arg
NM_000884.3:c.734T>G MANE Select	NP_000875.2:p.Leu245Arg