Canonical Allele Identifier: CA352741476

Gene: IMPDH2

Linked Data

• ClinVar Variation Id: 1305966
• ClinVar RCV Id: RCV001766919
• dbSNP Id: rs2106787098
• MyVariant Identifiers: chr3:g.49064393C>G (hg19) ; chr3:g.49026960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026960C>G , CM000665.2:g.49026960C>G	GRCh38
NC_000003.11:g.49064393C>G , CM000665.1:g.49064393C>G	GRCh37
NC_000003.10:g.49039397C>G	NCBI36
NG_012091.1:g.7483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659G>C	ENSP00000515567.1:p.Gly887Arg
ENST00000703937.1:c.*1720G>C	ENSP00000515568.1:n.*1720G>C
ENST00000326739.9:c.619G>C MANE Select	ENSP00000321584.4:p.Gly207Arg
ENST00000429182.6:c.619G>C	ENSP00000393525.2:p.Gly207Arg
ENST00000442157.2:c.544G>C	ENSP00000403502.2:p.Gly182Arg
ENST00000462980.2:n.1134G>C
ENST00000472328.2:n.685G>C
ENST00000491610.2:n.506G>C
ENST00000676607.1:n.915G>C
ENST00000676627.1:n.1349G>C
ENST00000676708.1:n.1826G>C
ENST00000676864.1:n.1695G>C
ENST00000677010.1:c.655G>C	ENSP00000503089.1:p.Gly219Arg
ENST00000677108.1:n.2452G>C
ENST00000677168.1:n.1091G>C
ENST00000677185.1:n.1109G>C
ENST00000677205.1:n.1330G>C
ENST00000677344.1:n.1820G>C
ENST00000677480.1:c.*296G>C	ENSP00000504378.1:n.*296G>C
ENST00000677519.1:n.1329G>C
ENST00000677593.1:n.1102G>C
ENST00000677740.1:n.2051G>C
ENST00000677991.1:n.1792G>C
ENST00000678001.1:n.1112G>C
ENST00000678085.1:n.1102G>C
ENST00000678177.1:n.2395G>C
ENST00000678603.1:n.1697G>C
ENST00000678724.1:c.544G>C	ENSP00000503874.1:p.Gly182Arg
ENST00000678920.1:n.777G>C
ENST00000679019.1:n.1316G>C
ENST00000679117.1:c.*434G>C	ENSP00000503240.1:n.*434G>C
ENST00000679339.1:n.1387G>C
ENST00000326739.8:c.619G>C	ENSP00000321584.4:p.Gly207Arg
ENST00000429182.5:c.413G>C
ENST00000442157.1:c.544G>C	ENSP00000403502.1:p.Gly182Arg
ENST00000462980.1:n.521G>C
ENST00000491610.1:n.506G>C
NM_000884.2:c.619G>C	NP_000875.2:p.Gly207Arg
XM_006713128.2:c.829G>C	XP_006713191.1:p.Gly277Arg
XM_006713128.3:c.829G>C	XP_006713191.1:p.Gly277Arg
XM_017006349.1:c.754G>C	XP_016861838.1:p.Gly252Arg
XM_017006350.1:c.754G>C	XP_016861839.1:p.Gly252Arg
NM_000884.3:c.619G>C MANE Select	NP_000875.2:p.Gly207Arg