Canonical Allele Identifier: CA352739599

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1230938867
• gnomAD v2: 3-49064021-T-C
• gnomAD v3: 3-49026588-T-C
• gnomAD v4: 3-49026588-T-C
• MyVariant Identifiers: chr3:g.49064021T>C (hg19) ; chr3:g.49026588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026588T>C , CM000665.2:g.49026588T>C	GRCh38
NC_000003.11:g.49064021T>C , CM000665.1:g.49064021T>C	GRCh37
NC_000003.10:g.49039025T>C	NCBI36
NG_012091.1:g.7855A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2881A>G	ENSP00000515567.1:p.Ile961Val
ENST00000703937.1:c.*1942A>G	ENSP00000515568.1:n.*1942A>G
ENST00000326739.9:c.841A>G MANE Select	ENSP00000321584.4:p.Ile281Val
ENST00000429182.6:c.841A>G	ENSP00000393525.2:p.Ile281Val
ENST00000442157.2:c.766A>G	ENSP00000403502.2:p.Ile256Val
ENST00000462980.2:n.1356A>G
ENST00000472328.2:n.907A>G
ENST00000491610.2:n.801A>G
ENST00000676607.1:n.1137A>G
ENST00000676627.1:n.1571A>G
ENST00000676708.1:n.2121A>G
ENST00000676864.1:n.1990A>G
ENST00000677010.1:c.865A>G	ENSP00000503089.1:p.Ile289Val
ENST00000677108.1:n.2824A>G
ENST00000677168.1:n.1313A>G
ENST00000677185.1:n.1404A>G
ENST00000677205.1:n.1625A>G
ENST00000677344.1:n.2115A>G
ENST00000677480.1:c.*518A>G	ENSP00000504378.1:n.*518A>G
ENST00000677519.1:n.1551A>G
ENST00000677593.1:n.1397A>G
ENST00000677740.1:n.2346A>G
ENST00000677991.1:n.2014A>G
ENST00000678001.1:n.1334A>G
ENST00000678085.1:n.1474A>G
ENST00000678177.1:n.2767A>G
ENST00000678603.1:n.1919A>G
ENST00000678724.1:c.766A>G	ENSP00000503874.1:p.Ile256Val
ENST00000678920.1:n.999A>G
ENST00000679019.1:n.1688A>G
ENST00000679117.1:c.*656A>G	ENSP00000503240.1:n.*656A>G
ENST00000679339.1:n.1682A>G
ENST00000326739.8:c.841A>G	ENSP00000321584.4:p.Ile281Val
ENST00000429182.5:c.635A>G
ENST00000442157.1:c.766A>G	ENSP00000403502.1:p.Ile256Val
ENST00000462980.1:n.743A>G
ENST00000491610.1:n.801A>G
NM_000884.2:c.841A>G	NP_000875.2:p.Ile281Val
XM_006713128.2:c.1051A>G	XP_006713191.1:p.Ile351Val
XM_006713128.3:c.1051A>G	XP_006713191.1:p.Ile351Val
XM_017006349.1:c.976A>G	XP_016861838.1:p.Ile326Val
XM_017006350.1:c.976A>G	XP_016861839.1:p.Ile326Val
NM_000884.3:c.841A>G MANE Select	NP_000875.2:p.Ile281Val