Canonical Allele Identifier: CA352739812

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064124A>G (hg19) ; chr3:g.49026691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026691A>G , CM000665.2:g.49026691A>G	GRCh38
NC_000003.11:g.49064124A>G , CM000665.1:g.49064124A>G	GRCh37
NC_000003.10:g.49039128A>G	NCBI36
NG_012091.1:g.7752T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2855T>C	ENSP00000515567.1:p.Val952Ala
ENST00000703937.1:c.*1916T>C	ENSP00000515568.1:n.*1916T>C
ENST00000326739.9:c.815T>C MANE Select	ENSP00000321584.4:p.Val272Ala
ENST00000429182.6:c.815T>C	ENSP00000393525.2:p.Val272Ala
ENST00000442157.2:c.740T>C	ENSP00000403502.2:p.Val247Ala
ENST00000462980.2:n.1330T>C
ENST00000472328.2:n.881T>C
ENST00000491610.2:n.775T>C
ENST00000676607.1:n.1111T>C
ENST00000676627.1:n.1545T>C
ENST00000676708.1:n.2095T>C
ENST00000676864.1:n.1964T>C
ENST00000677010.1:c.851T>C	ENSP00000503089.1:p.Val284Ala
ENST00000677108.1:n.2721T>C
ENST00000677168.1:n.1287T>C
ENST00000677185.1:n.1378T>C
ENST00000677205.1:n.1599T>C
ENST00000677344.1:n.2089T>C
ENST00000677480.1:c.*492T>C	ENSP00000504378.1:n.*492T>C
ENST00000677519.1:n.1525T>C
ENST00000677593.1:n.1371T>C
ENST00000677740.1:n.2320T>C
ENST00000677991.1:n.1988T>C
ENST00000678001.1:n.1308T>C
ENST00000678085.1:n.1371T>C
ENST00000678177.1:n.2664T>C
ENST00000678603.1:n.1893T>C
ENST00000678724.1:c.740T>C	ENSP00000503874.1:p.Val247Ala
ENST00000678920.1:n.973T>C
ENST00000679019.1:n.1585T>C
ENST00000679117.1:c.*630T>C	ENSP00000503240.1:n.*630T>C
ENST00000679339.1:n.1656T>C
ENST00000326739.8:c.815T>C	ENSP00000321584.4:p.Val272Ala
ENST00000429182.5:c.609T>C
ENST00000442157.1:c.740T>C	ENSP00000403502.1:p.Val247Ala
ENST00000462980.1:n.717T>C
ENST00000491610.1:n.775T>C
NM_000884.2:c.815T>C	NP_000875.2:p.Val272Ala
XM_006713128.2:c.1025T>C	XP_006713191.1:p.Val342Ala
XM_006713128.3:c.1025T>C	XP_006713191.1:p.Val342Ala
XM_017006349.1:c.950T>C	XP_016861838.1:p.Val317Ala
XM_017006350.1:c.950T>C	XP_016861839.1:p.Val317Ala
NM_000884.3:c.815T>C MANE Select	NP_000875.2:p.Val272Ala