Canonical Allele Identifier: CA352739959

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064151A>G (hg19) ; chr3:g.49026718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026718A>G , CM000665.2:g.49026718A>G	GRCh38
NC_000003.11:g.49064151A>G , CM000665.1:g.49064151A>G	GRCh37
NC_000003.10:g.49039155A>G	NCBI36
NG_012091.1:g.7725T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2828T>C	ENSP00000515567.1:p.Leu943Pro
ENST00000703937.1:c.*1889T>C	ENSP00000515568.1:n.*1889T>C
ENST00000326739.9:c.788T>C MANE Select	ENSP00000321584.4:p.Leu263Pro
ENST00000429182.6:c.788T>C	ENSP00000393525.2:p.Leu263Pro
ENST00000442157.2:c.713T>C	ENSP00000403502.2:p.Leu238Pro
ENST00000462980.2:n.1303T>C
ENST00000472328.2:n.854T>C
ENST00000491610.2:n.748T>C
ENST00000676607.1:n.1084T>C
ENST00000676627.1:n.1518T>C
ENST00000676708.1:n.2068T>C
ENST00000676864.1:n.1937T>C
ENST00000677010.1:c.824T>C	ENSP00000503089.1:p.Leu275Pro
ENST00000677108.1:n.2694T>C
ENST00000677168.1:n.1260T>C
ENST00000677185.1:n.1351T>C
ENST00000677205.1:n.1572T>C
ENST00000677344.1:n.2062T>C
ENST00000677480.1:c.*465T>C	ENSP00000504378.1:n.*465T>C
ENST00000677519.1:n.1498T>C
ENST00000677593.1:n.1344T>C
ENST00000677740.1:n.2293T>C
ENST00000677991.1:n.1961T>C
ENST00000678001.1:n.1281T>C
ENST00000678085.1:n.1344T>C
ENST00000678177.1:n.2637T>C
ENST00000678603.1:n.1866T>C
ENST00000678724.1:c.713T>C	ENSP00000503874.1:p.Leu238Pro
ENST00000678920.1:n.946T>C
ENST00000679019.1:n.1558T>C
ENST00000679117.1:c.*603T>C	ENSP00000503240.1:n.*603T>C
ENST00000679339.1:n.1629T>C
ENST00000326739.8:c.788T>C	ENSP00000321584.4:p.Leu263Pro
ENST00000429182.5:c.582T>C
ENST00000442157.1:c.713T>C	ENSP00000403502.1:p.Leu238Pro
ENST00000462980.1:n.690T>C
ENST00000491610.1:n.748T>C
NM_000884.2:c.788T>C	NP_000875.2:p.Leu263Pro
XM_006713128.2:c.998T>C	XP_006713191.1:p.Leu333Pro
XM_006713128.3:c.998T>C	XP_006713191.1:p.Leu333Pro
XM_017006349.1:c.923T>C	XP_016861838.1:p.Leu308Pro
XM_017006350.1:c.923T>C	XP_016861839.1:p.Leu308Pro
NM_000884.3:c.788T>C MANE Select	NP_000875.2:p.Leu263Pro