Canonical Allele Identifier: CA2390657

Gene: IMPDH2

Linked Data

• dbSNP Id: rs769004042
• ExAC: 3:49064405 G / A
• gnomAD v2: 3-49064405-G-A
• gnomAD v4: 3-49026972-G-A
• COSMIC: COSM5191093
• MyVariant Identifiers: chr3:g.49064405G>A (hg19) ; chr3:g.49026972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026972G>A , CM000665.2:g.49026972G>A	GRCh38
NC_000003.11:g.49064405G>A , CM000665.1:g.49064405G>A	GRCh37
NC_000003.10:g.49039409G>A	NCBI36
NG_012091.1:g.7471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2647C>T	ENSP00000515567.1:p.Arg883Cys
ENST00000703937.1:c.*1708C>T	ENSP00000515568.1:n.*1708C>T
ENST00000326739.9:c.607C>T MANE Select	ENSP00000321584.4:p.Arg203Cys
ENST00000429182.6:c.607C>T	ENSP00000393525.2:p.Arg203Cys
ENST00000442157.2:c.532C>T	ENSP00000403502.2:p.Arg178Cys
ENST00000462980.2:n.1122C>T
ENST00000472328.2:n.673C>T
ENST00000491610.2:n.494C>T
ENST00000676607.1:n.903C>T
ENST00000676627.1:n.1337C>T
ENST00000676708.1:n.1814C>T
ENST00000676864.1:n.1683C>T
ENST00000677010.1:c.643C>T	ENSP00000503089.1:p.Arg215Cys
ENST00000677108.1:n.2440C>T
ENST00000677168.1:n.1079C>T
ENST00000677185.1:n.1097C>T
ENST00000677205.1:n.1318C>T
ENST00000677344.1:n.1808C>T
ENST00000677480.1:c.*284C>T	ENSP00000504378.1:n.*284C>T
ENST00000677519.1:n.1317C>T
ENST00000677593.1:n.1090C>T
ENST00000677740.1:n.2039C>T
ENST00000677991.1:n.1780C>T
ENST00000678001.1:n.1100C>T
ENST00000678085.1:n.1090C>T
ENST00000678177.1:n.2383C>T
ENST00000678603.1:n.1685C>T
ENST00000678724.1:c.532C>T	ENSP00000503874.1:p.Arg178Cys
ENST00000678920.1:n.765C>T
ENST00000679019.1:n.1304C>T
ENST00000679117.1:c.*422C>T	ENSP00000503240.1:n.*422C>T
ENST00000679339.1:n.1375C>T
ENST00000326739.8:c.607C>T	ENSP00000321584.4:p.Arg203Cys
ENST00000429182.5:c.401C>T
ENST00000442157.1:c.532C>T	ENSP00000403502.1:p.Arg178Cys
ENST00000462980.1:n.509C>T
ENST00000491610.1:n.494C>T
NM_000884.2:c.607C>T	NP_000875.2:p.Arg203Cys
XM_006713128.2:c.817C>T	XP_006713191.1:p.Arg273Cys
XM_006713128.3:c.817C>T	XP_006713191.1:p.Arg273Cys
XM_017006349.1:c.742C>T	XP_016861838.1:p.Arg248Cys
XM_017006350.1:c.742C>T	XP_016861839.1:p.Arg248Cys
NM_000884.3:c.607C>T MANE Select	NP_000875.2:p.Arg203Cys