Canonical Allele Identifier: CA352740967

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064293C>A (hg19) ; chr3:g.49026860C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026860C>A , CM000665.2:g.49026860C>A	GRCh38
NC_000003.11:g.49064293C>A , CM000665.1:g.49064293C>A	GRCh37
NC_000003.10:g.49039297C>A	NCBI36
NG_012091.1:g.7583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2686G>T	ENSP00000515567.1:p.Asp896Tyr
ENST00000703937.1:c.*1747G>T	ENSP00000515568.1:n.*1747G>T
ENST00000326739.9:c.646G>T MANE Select	ENSP00000321584.4:p.Asp216Tyr
ENST00000429182.6:c.646G>T	ENSP00000393525.2:p.Asp216Tyr
ENST00000442157.2:c.571G>T	ENSP00000403502.2:p.Asp191Tyr
ENST00000462980.2:n.1161G>T
ENST00000472328.2:n.712G>T
ENST00000491610.2:n.606G>T
ENST00000676607.1:n.942G>T
ENST00000676627.1:n.1376G>T
ENST00000676708.1:n.1926G>T
ENST00000676864.1:n.1795G>T
ENST00000677010.1:c.682G>T	ENSP00000503089.1:p.Asp228Tyr
ENST00000677108.1:n.2552G>T
ENST00000677168.1:n.1118G>T
ENST00000677185.1:n.1209G>T
ENST00000677205.1:n.1430G>T
ENST00000677344.1:n.1920G>T
ENST00000677480.1:c.*323G>T	ENSP00000504378.1:n.*323G>T
ENST00000677519.1:n.1356G>T
ENST00000677593.1:n.1202G>T
ENST00000677740.1:n.2151G>T
ENST00000677991.1:n.1819G>T
ENST00000678001.1:n.1139G>T
ENST00000678085.1:n.1202G>T
ENST00000678177.1:n.2495G>T
ENST00000678603.1:n.1724G>T
ENST00000678724.1:c.571G>T	ENSP00000503874.1:p.Asp191Tyr
ENST00000678920.1:n.804G>T
ENST00000679019.1:n.1416G>T
ENST00000679117.1:c.*461G>T	ENSP00000503240.1:n.*461G>T
ENST00000679339.1:n.1487G>T
ENST00000326739.8:c.646G>T	ENSP00000321584.4:p.Asp216Tyr
ENST00000429182.5:c.440G>T
ENST00000442157.1:c.571G>T	ENSP00000403502.1:p.Asp191Tyr
ENST00000462980.1:n.548G>T
ENST00000491610.1:n.606G>T
NM_000884.2:c.646G>T	NP_000875.2:p.Asp216Tyr
XM_006713128.2:c.856G>T	XP_006713191.1:p.Asp286Tyr
XM_006713128.3:c.856G>T	XP_006713191.1:p.Asp286Tyr
XM_017006349.1:c.781G>T	XP_016861838.1:p.Asp261Tyr
XM_017006350.1:c.781G>T	XP_016861839.1:p.Asp261Tyr
NM_000884.3:c.646G>T MANE Select	NP_000875.2:p.Asp216Tyr