Canonical Allele Identifier: CA352741525

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026966-T-G
• MyVariant Identifiers: chr3:g.49064399T>G (hg19) ; chr3:g.49026966T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026966T>G , CM000665.2:g.49026966T>G	GRCh38
NC_000003.11:g.49064399T>G , CM000665.1:g.49064399T>G	GRCh37
NC_000003.10:g.49039403T>G	NCBI36
NG_012091.1:g.7477A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2653A>C	ENSP00000515567.1:p.Lys885Gln
ENST00000703937.1:c.*1714A>C	ENSP00000515568.1:n.*1714A>C
ENST00000326739.9:c.613A>C MANE Select	ENSP00000321584.4:p.Lys205Gln
ENST00000429182.6:c.613A>C	ENSP00000393525.2:p.Lys205Gln
ENST00000442157.2:c.538A>C	ENSP00000403502.2:p.Lys180Gln
ENST00000462980.2:n.1128A>C
ENST00000472328.2:n.679A>C
ENST00000491610.2:n.500A>C
ENST00000676607.1:n.909A>C
ENST00000676627.1:n.1343A>C
ENST00000676708.1:n.1820A>C
ENST00000676864.1:n.1689A>C
ENST00000677010.1:c.649A>C	ENSP00000503089.1:p.Lys217Gln
ENST00000677108.1:n.2446A>C
ENST00000677168.1:n.1085A>C
ENST00000677185.1:n.1103A>C
ENST00000677205.1:n.1324A>C
ENST00000677344.1:n.1814A>C
ENST00000677480.1:c.*290A>C	ENSP00000504378.1:n.*290A>C
ENST00000677519.1:n.1323A>C
ENST00000677593.1:n.1096A>C
ENST00000677740.1:n.2045A>C
ENST00000677991.1:n.1786A>C
ENST00000678001.1:n.1106A>C
ENST00000678085.1:n.1096A>C
ENST00000678177.1:n.2389A>C
ENST00000678603.1:n.1691A>C
ENST00000678724.1:c.538A>C	ENSP00000503874.1:p.Lys180Gln
ENST00000678920.1:n.771A>C
ENST00000679019.1:n.1310A>C
ENST00000679117.1:c.*428A>C	ENSP00000503240.1:n.*428A>C
ENST00000679339.1:n.1381A>C
ENST00000326739.8:c.613A>C	ENSP00000321584.4:p.Lys205Gln
ENST00000429182.5:c.407A>C
ENST00000442157.1:c.538A>C	ENSP00000403502.1:p.Lys180Gln
ENST00000462980.1:n.515A>C
ENST00000491610.1:n.500A>C
NM_000884.2:c.613A>C	NP_000875.2:p.Lys205Gln
XM_006713128.2:c.823A>C	XP_006713191.1:p.Lys275Gln
XM_006713128.3:c.823A>C	XP_006713191.1:p.Lys275Gln
XM_017006349.1:c.748A>C	XP_016861838.1:p.Lys250Gln
XM_017006350.1:c.748A>C	XP_016861839.1:p.Lys250Gln
NM_000884.3:c.613A>C MANE Select	NP_000875.2:p.Lys205Gln