Canonical Allele Identifier: CA352740311

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064205A>G (hg19) ; chr3:g.49026772A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026772A>G , CM000665.2:g.49026772A>G	GRCh38
NC_000003.11:g.49064205A>G , CM000665.1:g.49064205A>G	GRCh37
NC_000003.10:g.49039209A>G	NCBI36
NG_012091.1:g.7671T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2774T>C	ENSP00000515567.1:p.Leu925Pro
ENST00000703937.1:c.*1835T>C	ENSP00000515568.1:n.*1835T>C
ENST00000326739.9:c.734T>C MANE Select	ENSP00000321584.4:p.Leu245Pro
ENST00000429182.6:c.734T>C	ENSP00000393525.2:p.Leu245Pro
ENST00000442157.2:c.659T>C	ENSP00000403502.2:p.Leu220Pro
ENST00000462980.2:n.1249T>C
ENST00000472328.2:n.800T>C
ENST00000491610.2:n.694T>C
ENST00000676607.1:n.1030T>C
ENST00000676627.1:n.1464T>C
ENST00000676708.1:n.2014T>C
ENST00000676864.1:n.1883T>C
ENST00000677010.1:c.770T>C	ENSP00000503089.1:p.Leu257Pro
ENST00000677108.1:n.2640T>C
ENST00000677168.1:n.1206T>C
ENST00000677185.1:n.1297T>C
ENST00000677205.1:n.1518T>C
ENST00000677344.1:n.2008T>C
ENST00000677480.1:c.*411T>C	ENSP00000504378.1:n.*411T>C
ENST00000677519.1:n.1444T>C
ENST00000677593.1:n.1290T>C
ENST00000677740.1:n.2239T>C
ENST00000677991.1:n.1907T>C
ENST00000678001.1:n.1227T>C
ENST00000678085.1:n.1290T>C
ENST00000678177.1:n.2583T>C
ENST00000678603.1:n.1812T>C
ENST00000678724.1:c.659T>C	ENSP00000503874.1:p.Leu220Pro
ENST00000678920.1:n.892T>C
ENST00000679019.1:n.1504T>C
ENST00000679117.1:c.*549T>C	ENSP00000503240.1:n.*549T>C
ENST00000679339.1:n.1575T>C
ENST00000326739.8:c.734T>C	ENSP00000321584.4:p.Leu245Pro
ENST00000429182.5:c.528T>C
ENST00000442157.1:c.659T>C	ENSP00000403502.1:p.Leu220Pro
ENST00000462980.1:n.636T>C
ENST00000491610.1:n.694T>C
NM_000884.2:c.734T>C	NP_000875.2:p.Leu245Pro
XM_006713128.2:c.944T>C	XP_006713191.1:p.Leu315Pro
XM_006713128.3:c.944T>C	XP_006713191.1:p.Leu315Pro
XM_017006349.1:c.869T>C	XP_016861838.1:p.Leu290Pro
XM_017006350.1:c.869T>C	XP_016861839.1:p.Leu290Pro
NM_000884.3:c.734T>C MANE Select	NP_000875.2:p.Leu245Pro