Canonical Allele Identifier: CA352739846

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064131C>G (hg19) ; chr3:g.49026698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026698C>G , CM000665.2:g.49026698C>G	GRCh38
NC_000003.11:g.49064131C>G , CM000665.1:g.49064131C>G	GRCh37
NC_000003.10:g.49039135C>G	NCBI36
NG_012091.1:g.7745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2848G>C	ENSP00000515567.1:p.Val950Leu
ENST00000703937.1:c.*1909G>C	ENSP00000515568.1:n.*1909G>C
ENST00000326739.9:c.808G>C MANE Select	ENSP00000321584.4:p.Val270Leu
ENST00000429182.6:c.808G>C	ENSP00000393525.2:p.Val270Leu
ENST00000442157.2:c.733G>C	ENSP00000403502.2:p.Val245Leu
ENST00000462980.2:n.1323G>C
ENST00000472328.2:n.874G>C
ENST00000491610.2:n.768G>C
ENST00000676607.1:n.1104G>C
ENST00000676627.1:n.1538G>C
ENST00000676708.1:n.2088G>C
ENST00000676864.1:n.1957G>C
ENST00000677010.1:c.844G>C	ENSP00000503089.1:p.Val282Leu
ENST00000677108.1:n.2714G>C
ENST00000677168.1:n.1280G>C
ENST00000677185.1:n.1371G>C
ENST00000677205.1:n.1592G>C
ENST00000677344.1:n.2082G>C
ENST00000677480.1:c.*485G>C	ENSP00000504378.1:n.*485G>C
ENST00000677519.1:n.1518G>C
ENST00000677593.1:n.1364G>C
ENST00000677740.1:n.2313G>C
ENST00000677991.1:n.1981G>C
ENST00000678001.1:n.1301G>C
ENST00000678085.1:n.1364G>C
ENST00000678177.1:n.2657G>C
ENST00000678603.1:n.1886G>C
ENST00000678724.1:c.733G>C	ENSP00000503874.1:p.Val245Leu
ENST00000678920.1:n.966G>C
ENST00000679019.1:n.1578G>C
ENST00000679117.1:c.*623G>C	ENSP00000503240.1:n.*623G>C
ENST00000679339.1:n.1649G>C
ENST00000326739.8:c.808G>C	ENSP00000321584.4:p.Val270Leu
ENST00000429182.5:c.602G>C
ENST00000442157.1:c.733G>C	ENSP00000403502.1:p.Val245Leu
ENST00000462980.1:n.710G>C
ENST00000491610.1:n.768G>C
NM_000884.2:c.808G>C	NP_000875.2:p.Val270Leu
XM_006713128.2:c.1018G>C	XP_006713191.1:p.Val340Leu
XM_006713128.3:c.1018G>C	XP_006713191.1:p.Val340Leu
XM_017006349.1:c.943G>C	XP_016861838.1:p.Val315Leu
XM_017006350.1:c.943G>C	XP_016861839.1:p.Val315Leu
NM_000884.3:c.808G>C MANE Select	NP_000875.2:p.Val270Leu