Canonical Allele Identifier: CA2390630

Gene: IMPDH2

Linked Data

• dbSNP Id: rs377463111
• ExAC: 3:49064269 G / A
• gnomAD v2: 3-49064269-G-A
• gnomAD v3: 3-49026836-G-A
• gnomAD v4: 3-49026836-G-A
• COSMIC: COSM1423862
• MyVariant Identifiers: chr3:g.49064269G>A (hg19) ; chr3:g.49026836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026836G>A , CM000665.2:g.49026836G>A	GRCh38
NC_000003.11:g.49064269G>A , CM000665.1:g.49064269G>A	GRCh37
NC_000003.10:g.49039273G>A	NCBI36
NG_012091.1:g.7607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2710C>T	ENSP00000515567.1:p.Arg904Trp
ENST00000703937.1:c.*1771C>T	ENSP00000515568.1:n.*1771C>T
ENST00000326739.9:c.670C>T MANE Select	ENSP00000321584.4:p.Arg224Trp
ENST00000429182.6:c.670C>T	ENSP00000393525.2:p.Arg224Trp
ENST00000442157.2:c.595C>T	ENSP00000403502.2:p.Arg199Trp
ENST00000462980.2:n.1185C>T
ENST00000472328.2:n.736C>T
ENST00000491610.2:n.630C>T
ENST00000676607.1:n.966C>T
ENST00000676627.1:n.1400C>T
ENST00000676708.1:n.1950C>T
ENST00000676864.1:n.1819C>T
ENST00000677010.1:c.706C>T	ENSP00000503089.1:p.Arg236Trp
ENST00000677108.1:n.2576C>T
ENST00000677168.1:n.1142C>T
ENST00000677185.1:n.1233C>T
ENST00000677205.1:n.1454C>T
ENST00000677344.1:n.1944C>T
ENST00000677480.1:c.*347C>T	ENSP00000504378.1:n.*347C>T
ENST00000677519.1:n.1380C>T
ENST00000677593.1:n.1226C>T
ENST00000677740.1:n.2175C>T
ENST00000677991.1:n.1843C>T
ENST00000678001.1:n.1163C>T
ENST00000678085.1:n.1226C>T
ENST00000678177.1:n.2519C>T
ENST00000678603.1:n.1748C>T
ENST00000678724.1:c.595C>T	ENSP00000503874.1:p.Arg199Trp
ENST00000678920.1:n.828C>T
ENST00000679019.1:n.1440C>T
ENST00000679117.1:c.*485C>T	ENSP00000503240.1:n.*485C>T
ENST00000679339.1:n.1511C>T
ENST00000326739.8:c.670C>T	ENSP00000321584.4:p.Arg224Trp
ENST00000429182.5:c.464C>T
ENST00000442157.1:c.595C>T	ENSP00000403502.1:p.Arg199Trp
ENST00000462980.1:n.572C>T
ENST00000491610.1:n.630C>T
NM_000884.2:c.670C>T	NP_000875.2:p.Arg224Trp
XM_006713128.2:c.880C>T	XP_006713191.1:p.Arg294Trp
XM_006713128.3:c.880C>T	XP_006713191.1:p.Arg294Trp
XM_017006349.1:c.805C>T	XP_016861838.1:p.Arg269Trp
XM_017006350.1:c.805C>T	XP_016861839.1:p.Arg269Trp
NM_000884.3:c.670C>T MANE Select	NP_000875.2:p.Arg224Trp