Canonical Allele Identifier: CA2390621

Gene: IMPDH2

Linked Data

• dbSNP Id: rs757304269
• ExAC: 3:49064201 A / C
• gnomAD v2: 3-49064201-A-C
• gnomAD v4: 3-49026768-A-C
• MyVariant Identifiers: chr3:g.49064201A>C (hg19) ; chr3:g.49026768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026768A>C , CM000665.2:g.49026768A>C	GRCh38
NC_000003.11:g.49064201A>C , CM000665.1:g.49064201A>C	GRCh37
NC_000003.10:g.49039205A>C	NCBI36
NG_012091.1:g.7675T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2778T>G	ENSP00000515567.1:p.Cys926Trp
ENST00000703937.1:c.*1839T>G	ENSP00000515568.1:n.*1839T>G
ENST00000326739.9:c.738T>G MANE Select	ENSP00000321584.4:p.Cys246Trp
ENST00000429182.6:c.738T>G	ENSP00000393525.2:p.Cys246Trp
ENST00000442157.2:c.663T>G	ENSP00000403502.2:p.Cys221Trp
ENST00000462980.2:n.1253T>G
ENST00000472328.2:n.804T>G
ENST00000491610.2:n.698T>G
ENST00000676607.1:n.1034T>G
ENST00000676627.1:n.1468T>G
ENST00000676708.1:n.2018T>G
ENST00000676864.1:n.1887T>G
ENST00000677010.1:c.774T>G	ENSP00000503089.1:p.Cys258Trp
ENST00000677108.1:n.2644T>G
ENST00000677168.1:n.1210T>G
ENST00000677185.1:n.1301T>G
ENST00000677205.1:n.1522T>G
ENST00000677344.1:n.2012T>G
ENST00000677480.1:c.*415T>G	ENSP00000504378.1:n.*415T>G
ENST00000677519.1:n.1448T>G
ENST00000677593.1:n.1294T>G
ENST00000677740.1:n.2243T>G
ENST00000677991.1:n.1911T>G
ENST00000678001.1:n.1231T>G
ENST00000678085.1:n.1294T>G
ENST00000678177.1:n.2587T>G
ENST00000678603.1:n.1816T>G
ENST00000678724.1:c.663T>G	ENSP00000503874.1:p.Cys221Trp
ENST00000678920.1:n.896T>G
ENST00000679019.1:n.1508T>G
ENST00000679117.1:c.*553T>G	ENSP00000503240.1:n.*553T>G
ENST00000679339.1:n.1579T>G
ENST00000326739.8:c.738T>G	ENSP00000321584.4:p.Cys246Trp
ENST00000429182.5:c.532T>G
ENST00000442157.1:c.663T>G	ENSP00000403502.1:p.Cys221Trp
ENST00000462980.1:n.640T>G
ENST00000491610.1:n.698T>G
NM_000884.2:c.738T>G	NP_000875.2:p.Cys246Trp
XM_006713128.2:c.948T>G	XP_006713191.1:p.Cys316Trp
XM_006713128.3:c.948T>G	XP_006713191.1:p.Cys316Trp
XM_017006349.1:c.873T>G	XP_016861838.1:p.Cys291Trp
XM_017006350.1:c.873T>G	XP_016861839.1:p.Cys291Trp
NM_000884.3:c.738T>G MANE Select	NP_000875.2:p.Cys246Trp