Canonical Allele Identifier: CA352741234

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064312C>G (hg19) ; chr3:g.49026879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026879C>G , CM000665.2:g.49026879C>G	GRCh38
NC_000003.11:g.49064312C>G , CM000665.1:g.49064312C>G	GRCh37
NC_000003.10:g.49039316C>G	NCBI36
NG_012091.1:g.7564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2667G>C	ENSP00000515567.1:p.Leu889Phe
ENST00000703937.1:c.*1728G>C	ENSP00000515568.1:n.*1728G>C
ENST00000326739.9:c.627G>C MANE Select	ENSP00000321584.4:p.Leu209Phe
ENST00000429182.6:c.627G>C	ENSP00000393525.2:p.Leu209Phe
ENST00000442157.2:c.552G>C	ENSP00000403502.2:p.Leu184Phe
ENST00000462980.2:n.1142G>C
ENST00000472328.2:n.693G>C
ENST00000491610.2:n.587G>C
ENST00000676607.1:n.923G>C
ENST00000676627.1:n.1357G>C
ENST00000676708.1:n.1907G>C
ENST00000676864.1:n.1776G>C
ENST00000677010.1:c.663G>C	ENSP00000503089.1:p.Leu221Phe
ENST00000677108.1:n.2533G>C
ENST00000677168.1:n.1099G>C
ENST00000677185.1:n.1190G>C
ENST00000677205.1:n.1411G>C
ENST00000677344.1:n.1901G>C
ENST00000677480.1:c.*304G>C	ENSP00000504378.1:n.*304G>C
ENST00000677519.1:n.1337G>C
ENST00000677593.1:n.1183G>C
ENST00000677740.1:n.2132G>C
ENST00000677991.1:n.1800G>C
ENST00000678001.1:n.1120G>C
ENST00000678085.1:n.1183G>C
ENST00000678177.1:n.2476G>C
ENST00000678603.1:n.1705G>C
ENST00000678724.1:c.552G>C	ENSP00000503874.1:p.Leu184Phe
ENST00000678920.1:n.785G>C
ENST00000679019.1:n.1397G>C
ENST00000679117.1:c.*442G>C	ENSP00000503240.1:n.*442G>C
ENST00000679339.1:n.1468G>C
ENST00000326739.8:c.627G>C	ENSP00000321584.4:p.Leu209Phe
ENST00000429182.5:c.421G>C
ENST00000442157.1:c.552G>C	ENSP00000403502.1:p.Leu184Phe
ENST00000462980.1:n.529G>C
ENST00000491610.1:n.587G>C
NM_000884.2:c.627G>C	NP_000875.2:p.Leu209Phe
XM_006713128.2:c.837G>C	XP_006713191.1:p.Leu279Phe
XM_006713128.3:c.837G>C	XP_006713191.1:p.Leu279Phe
XM_017006349.1:c.762G>C	XP_016861838.1:p.Leu254Phe
XM_017006350.1:c.762G>C	XP_016861839.1:p.Leu254Phe
NM_000884.3:c.627G>C MANE Select	NP_000875.2:p.Leu209Phe