Canonical Allele Identifier: CA352739564

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064016G>C (hg19) ; chr3:g.49026583G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026583G>C , CM000665.2:g.49026583G>C	GRCh38
NC_000003.11:g.49064016G>C , CM000665.1:g.49064016G>C	GRCh37
NC_000003.10:g.49039020G>C	NCBI36
NG_012091.1:g.7860C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2886C>G	ENSP00000515567.1:p.Phe962Leu
ENST00000703937.1:c.*1947C>G	ENSP00000515568.1:n.*1947C>G
ENST00000326739.9:c.846C>G MANE Select	ENSP00000321584.4:p.Phe282Leu
ENST00000429182.6:c.846C>G	ENSP00000393525.2:p.Phe282Leu
ENST00000442157.2:c.771C>G	ENSP00000403502.2:p.Phe257Leu
ENST00000462980.2:n.1361C>G
ENST00000472328.2:n.912C>G
ENST00000491610.2:n.806C>G
ENST00000676607.1:n.1142C>G
ENST00000676627.1:n.1576C>G
ENST00000676708.1:n.2126C>G
ENST00000676864.1:n.1995C>G
ENST00000677010.1:c.870C>G	ENSP00000503089.1:p.Phe290Leu
ENST00000677108.1:n.2829C>G
ENST00000677168.1:n.1318C>G
ENST00000677185.1:n.1409C>G
ENST00000677205.1:n.1630C>G
ENST00000677344.1:n.2120C>G
ENST00000677480.1:c.*523C>G	ENSP00000504378.1:n.*523C>G
ENST00000677519.1:n.1556C>G
ENST00000677593.1:n.1402C>G
ENST00000677740.1:n.2351C>G
ENST00000677991.1:n.2019C>G
ENST00000678001.1:n.1339C>G
ENST00000678085.1:n.1479C>G
ENST00000678177.1:n.2772C>G
ENST00000678603.1:n.1924C>G
ENST00000678724.1:c.771C>G	ENSP00000503874.1:p.Phe257Leu
ENST00000678920.1:n.1004C>G
ENST00000679019.1:n.1693C>G
ENST00000679117.1:c.*661C>G	ENSP00000503240.1:n.*661C>G
ENST00000679339.1:n.1687C>G
ENST00000326739.8:c.846C>G	ENSP00000321584.4:p.Phe282Leu
ENST00000429182.5:c.640C>G
ENST00000442157.1:c.771C>G	ENSP00000403502.1:p.Phe257Leu
ENST00000462980.1:n.748C>G
ENST00000491610.1:n.806C>G
NM_000884.2:c.846C>G	NP_000875.2:p.Phe282Leu
XM_006713128.2:c.1056C>G	XP_006713191.1:p.Phe352Leu
XM_006713128.3:c.1056C>G	XP_006713191.1:p.Phe352Leu
XM_017006349.1:c.981C>G	XP_016861838.1:p.Phe327Leu
XM_017006350.1:c.981C>G	XP_016861839.1:p.Phe327Leu
NM_000884.3:c.846C>G MANE Select	NP_000875.2:p.Phe282Leu