Canonical Allele Identifier: CA352739950

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064149C>A (hg19) ; chr3:g.49026716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026716C>A , CM000665.2:g.49026716C>A	GRCh38
NC_000003.11:g.49064149C>A , CM000665.1:g.49064149C>A	GRCh37
NC_000003.10:g.49039153C>A	NCBI36
NG_012091.1:g.7727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2830G>T	ENSP00000515567.1:p.Ala944Ser
ENST00000703937.1:c.*1891G>T	ENSP00000515568.1:n.*1891G>T
ENST00000326739.9:c.790G>T MANE Select	ENSP00000321584.4:p.Ala264Ser
ENST00000429182.6:c.790G>T	ENSP00000393525.2:p.Ala264Ser
ENST00000442157.2:c.715G>T	ENSP00000403502.2:p.Ala239Ser
ENST00000462980.2:n.1305G>T
ENST00000472328.2:n.856G>T
ENST00000491610.2:n.750G>T
ENST00000676607.1:n.1086G>T
ENST00000676627.1:n.1520G>T
ENST00000676708.1:n.2070G>T
ENST00000676864.1:n.1939G>T
ENST00000677010.1:c.826G>T	ENSP00000503089.1:p.Ala276Ser
ENST00000677108.1:n.2696G>T
ENST00000677168.1:n.1262G>T
ENST00000677185.1:n.1353G>T
ENST00000677205.1:n.1574G>T
ENST00000677344.1:n.2064G>T
ENST00000677480.1:c.*467G>T	ENSP00000504378.1:n.*467G>T
ENST00000677519.1:n.1500G>T
ENST00000677593.1:n.1346G>T
ENST00000677740.1:n.2295G>T
ENST00000677991.1:n.1963G>T
ENST00000678001.1:n.1283G>T
ENST00000678085.1:n.1346G>T
ENST00000678177.1:n.2639G>T
ENST00000678603.1:n.1868G>T
ENST00000678724.1:c.715G>T	ENSP00000503874.1:p.Ala239Ser
ENST00000678920.1:n.948G>T
ENST00000679019.1:n.1560G>T
ENST00000679117.1:c.*605G>T	ENSP00000503240.1:n.*605G>T
ENST00000679339.1:n.1631G>T
ENST00000326739.8:c.790G>T	ENSP00000321584.4:p.Ala264Ser
ENST00000429182.5:c.584G>T
ENST00000442157.1:c.715G>T	ENSP00000403502.1:p.Ala239Ser
ENST00000462980.1:n.692G>T
ENST00000491610.1:n.750G>T
NM_000884.2:c.790G>T	NP_000875.2:p.Ala264Ser
XM_006713128.2:c.1000G>T	XP_006713191.1:p.Ala334Ser
XM_006713128.3:c.1000G>T	XP_006713191.1:p.Ala334Ser
XM_017006349.1:c.925G>T	XP_016861838.1:p.Ala309Ser
XM_017006350.1:c.925G>T	XP_016861839.1:p.Ala309Ser
NM_000884.3:c.790G>T MANE Select	NP_000875.2:p.Ala264Ser