Canonical Allele Identifier: CA352739592

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1402430681
• gnomAD v4: 3-49026587-A-G
• MyVariant Identifiers: chr3:g.49064020A>G (hg19) ; chr3:g.49026587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026587A>G , CM000665.2:g.49026587A>G	GRCh38
NC_000003.11:g.49064020A>G , CM000665.1:g.49064020A>G	GRCh37
NC_000003.10:g.49039024A>G	NCBI36
NG_012091.1:g.7856T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2882T>C	ENSP00000515567.1:p.Ile961Thr
ENST00000703937.1:c.*1943T>C	ENSP00000515568.1:n.*1943T>C
ENST00000326739.9:c.842T>C MANE Select	ENSP00000321584.4:p.Ile281Thr
ENST00000429182.6:c.842T>C	ENSP00000393525.2:p.Ile281Thr
ENST00000442157.2:c.767T>C	ENSP00000403502.2:p.Ile256Thr
ENST00000462980.2:n.1357T>C
ENST00000472328.2:n.908T>C
ENST00000491610.2:n.802T>C
ENST00000676607.1:n.1138T>C
ENST00000676627.1:n.1572T>C
ENST00000676708.1:n.2122T>C
ENST00000676864.1:n.1991T>C
ENST00000677010.1:c.866T>C	ENSP00000503089.1:p.Ile289Thr
ENST00000677108.1:n.2825T>C
ENST00000677168.1:n.1314T>C
ENST00000677185.1:n.1405T>C
ENST00000677205.1:n.1626T>C
ENST00000677344.1:n.2116T>C
ENST00000677480.1:c.*519T>C	ENSP00000504378.1:n.*519T>C
ENST00000677519.1:n.1552T>C
ENST00000677593.1:n.1398T>C
ENST00000677740.1:n.2347T>C
ENST00000677991.1:n.2015T>C
ENST00000678001.1:n.1335T>C
ENST00000678085.1:n.1475T>C
ENST00000678177.1:n.2768T>C
ENST00000678603.1:n.1920T>C
ENST00000678724.1:c.767T>C	ENSP00000503874.1:p.Ile256Thr
ENST00000678920.1:n.1000T>C
ENST00000679019.1:n.1689T>C
ENST00000679117.1:c.*657T>C	ENSP00000503240.1:n.*657T>C
ENST00000679339.1:n.1683T>C
ENST00000326739.8:c.842T>C	ENSP00000321584.4:p.Ile281Thr
ENST00000429182.5:c.636T>C
ENST00000442157.1:c.767T>C	ENSP00000403502.1:p.Ile256Thr
ENST00000462980.1:n.744T>C
ENST00000491610.1:n.802T>C
NM_000884.2:c.842T>C	NP_000875.2:p.Ile281Thr
XM_006713128.2:c.1052T>C	XP_006713191.1:p.Ile351Thr
XM_006713128.3:c.1052T>C	XP_006713191.1:p.Ile351Thr
XM_017006349.1:c.977T>C	XP_016861838.1:p.Ile326Thr
XM_017006350.1:c.977T>C	XP_016861839.1:p.Ile326Thr
NM_000884.3:c.842T>C MANE Select	NP_000875.2:p.Ile281Thr