Canonical Allele Identifier: CA352740842

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064275T>G (hg19) ; chr3:g.49026842T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026842T>G , CM000665.2:g.49026842T>G	GRCh38
NC_000003.11:g.49064275T>G , CM000665.1:g.49064275T>G	GRCh37
NC_000003.10:g.49039279T>G	NCBI36
NG_012091.1:g.7601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2704A>C	ENSP00000515567.1:p.Ile902Leu
ENST00000703937.1:c.*1765A>C	ENSP00000515568.1:n.*1765A>C
ENST00000326739.9:c.664A>C MANE Select	ENSP00000321584.4:p.Ile222Leu
ENST00000429182.6:c.664A>C	ENSP00000393525.2:p.Ile222Leu
ENST00000442157.2:c.589A>C	ENSP00000403502.2:p.Ile197Leu
ENST00000462980.2:n.1179A>C
ENST00000472328.2:n.730A>C
ENST00000491610.2:n.624A>C
ENST00000676607.1:n.960A>C
ENST00000676627.1:n.1394A>C
ENST00000676708.1:n.1944A>C
ENST00000676864.1:n.1813A>C
ENST00000677010.1:c.700A>C	ENSP00000503089.1:p.Ile234Leu
ENST00000677108.1:n.2570A>C
ENST00000677168.1:n.1136A>C
ENST00000677185.1:n.1227A>C
ENST00000677205.1:n.1448A>C
ENST00000677344.1:n.1938A>C
ENST00000677480.1:c.*341A>C	ENSP00000504378.1:n.*341A>C
ENST00000677519.1:n.1374A>C
ENST00000677593.1:n.1220A>C
ENST00000677740.1:n.2169A>C
ENST00000677991.1:n.1837A>C
ENST00000678001.1:n.1157A>C
ENST00000678085.1:n.1220A>C
ENST00000678177.1:n.2513A>C
ENST00000678603.1:n.1742A>C
ENST00000678724.1:c.589A>C	ENSP00000503874.1:p.Ile197Leu
ENST00000678920.1:n.822A>C
ENST00000679019.1:n.1434A>C
ENST00000679117.1:c.*479A>C	ENSP00000503240.1:n.*479A>C
ENST00000679339.1:n.1505A>C
ENST00000326739.8:c.664A>C	ENSP00000321584.4:p.Ile222Leu
ENST00000429182.5:c.458A>C
ENST00000442157.1:c.589A>C	ENSP00000403502.1:p.Ile197Leu
ENST00000462980.1:n.566A>C
ENST00000491610.1:n.624A>C
NM_000884.2:c.664A>C	NP_000875.2:p.Ile222Leu
XM_006713128.2:c.874A>C	XP_006713191.1:p.Ile292Leu
XM_006713128.3:c.874A>C	XP_006713191.1:p.Ile292Leu
XM_017006349.1:c.799A>C	XP_016861838.1:p.Ile267Leu
XM_017006350.1:c.799A>C	XP_016861839.1:p.Ile267Leu
NM_000884.3:c.664A>C MANE Select	NP_000875.2:p.Ile222Leu