Canonical Allele Identifier: CA352739590

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064020A>C (hg19) ; chr3:g.49026587A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2882T>G	ENSP00000515567.1:p.Ile961Ser
ENST00000703937.1:c.*1943T>G	ENSP00000515568.1:n.*1943T>G
ENST00000326739.9:c.842T>G MANE Select	ENSP00000321584.4:p.Ile281Ser
ENST00000429182.6:c.842T>G	ENSP00000393525.2:p.Ile281Ser
ENST00000442157.2:c.767T>G	ENSP00000403502.2:p.Ile256Ser
ENST00000462980.2:n.1357T>G
ENST00000472328.2:n.908T>G
ENST00000491610.2:n.802T>G
ENST00000676607.1:n.1138T>G
ENST00000676627.1:n.1572T>G
ENST00000676708.1:n.2122T>G
ENST00000676864.1:n.1991T>G
ENST00000677010.1:c.866T>G	ENSP00000503089.1:p.Ile289Ser
ENST00000677108.1:n.2825T>G
ENST00000677168.1:n.1314T>G
ENST00000677185.1:n.1405T>G
ENST00000677205.1:n.1626T>G
ENST00000677344.1:n.2116T>G
ENST00000677480.1:c.*519T>G	ENSP00000504378.1:n.*519T>G
ENST00000677519.1:n.1552T>G
ENST00000677593.1:n.1398T>G
ENST00000677740.1:n.2347T>G
ENST00000677991.1:n.2015T>G
ENST00000678001.1:n.1335T>G
ENST00000678085.1:n.1475T>G
ENST00000678177.1:n.2768T>G
ENST00000678603.1:n.1920T>G
ENST00000678724.1:c.767T>G	ENSP00000503874.1:p.Ile256Ser
ENST00000678920.1:n.1000T>G
ENST00000679019.1:n.1689T>G
ENST00000679117.1:c.*657T>G	ENSP00000503240.1:n.*657T>G
ENST00000679339.1:n.1683T>G
ENST00000326739.8:c.842T>G	ENSP00000321584.4:p.Ile281Ser
ENST00000429182.5:c.636T>G
ENST00000442157.1:c.767T>G	ENSP00000403502.1:p.Ile256Ser
ENST00000462980.1:n.744T>G
ENST00000491610.1:n.802T>G
NM_000884.2:c.842T>G	NP_000875.2:p.Ile281Ser
XM_006713128.2:c.1052T>G	XP_006713191.1:p.Ile351Ser
XM_006713128.3:c.1052T>G	XP_006713191.1:p.Ile351Ser
XM_017006349.1:c.977T>G	XP_016861838.1:p.Ile326Ser
XM_017006350.1:c.977T>G	XP_016861839.1:p.Ile326Ser
NM_000884.3:c.842T>G MANE Select	NP_000875.2:p.Ile281Ser