Canonical Allele Identifier: CA352741810

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026995-T-C
• MyVariant Identifiers: chr3:g.49064428T>C (hg19) ; chr3:g.49026995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026995T>C , CM000665.2:g.49026995T>C	GRCh38
NC_000003.11:g.49064428T>C , CM000665.1:g.49064428T>C	GRCh37
NC_000003.10:g.49039432T>C	NCBI36
NG_012091.1:g.7448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2624A>G	ENSP00000515567.1:p.Lys875Arg
ENST00000703937.1:c.*1685A>G	ENSP00000515568.1:n.*1685A>G
ENST00000326739.9:c.584A>G MANE Select	ENSP00000321584.4:p.Lys195Arg
ENST00000429182.6:c.584A>G	ENSP00000393525.2:p.Lys195Arg
ENST00000442157.2:c.509A>G	ENSP00000403502.2:p.Lys170Arg
ENST00000462980.2:n.1099A>G
ENST00000472328.2:n.650A>G
ENST00000491610.2:n.471A>G
ENST00000676607.1:n.880A>G
ENST00000676627.1:n.1314A>G
ENST00000676708.1:n.1791A>G
ENST00000676864.1:n.1660A>G
ENST00000677010.1:c.620A>G	ENSP00000503089.1:p.Lys207Arg
ENST00000677108.1:n.2417A>G
ENST00000677168.1:n.1056A>G
ENST00000677185.1:n.1074A>G
ENST00000677205.1:n.1295A>G
ENST00000677344.1:n.1785A>G
ENST00000677480.1:c.*261A>G	ENSP00000504378.1:n.*261A>G
ENST00000677519.1:n.1294A>G
ENST00000677593.1:n.1067A>G
ENST00000677740.1:n.2016A>G
ENST00000677991.1:n.1757A>G
ENST00000678001.1:n.1077A>G
ENST00000678085.1:n.1067A>G
ENST00000678177.1:n.2360A>G
ENST00000678603.1:n.1662A>G
ENST00000678724.1:c.509A>G	ENSP00000503874.1:p.Lys170Arg
ENST00000678920.1:n.742A>G
ENST00000679019.1:n.1281A>G
ENST00000679117.1:c.*399A>G	ENSP00000503240.1:n.*399A>G
ENST00000679339.1:n.1352A>G
ENST00000326739.8:c.584A>G	ENSP00000321584.4:p.Lys195Arg
ENST00000429182.5:c.378A>G
ENST00000442157.1:c.509A>G	ENSP00000403502.1:p.Lys170Arg
ENST00000462980.1:n.486A>G
ENST00000491610.1:n.471A>G
NM_000884.2:c.584A>G	NP_000875.2:p.Lys195Arg
XM_006713128.2:c.794A>G	XP_006713191.1:p.Lys265Arg
XM_006713128.3:c.794A>G	XP_006713191.1:p.Lys265Arg
XM_017006349.1:c.719A>G	XP_016861838.1:p.Lys240Arg
XM_017006350.1:c.719A>G	XP_016861839.1:p.Lys240Arg
NM_000884.3:c.584A>G MANE Select	NP_000875.2:p.Lys195Arg