Canonical Allele Identifier: CA352739542

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064012T>G (hg19) ; chr3:g.49026579T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026579T>G , CM000665.2:g.49026579T>G	GRCh38
NC_000003.11:g.49064012T>G , CM000665.1:g.49064012T>G	GRCh37
NC_000003.10:g.49039016T>G	NCBI36
NG_012091.1:g.7864A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2890A>C	ENSP00000515567.1:p.Ile964Leu
ENST00000703937.1:c.*1951A>C	ENSP00000515568.1:n.*1951A>C
ENST00000326739.9:c.850A>C MANE Select	ENSP00000321584.4:p.Ile284Leu
ENST00000429182.6:c.850A>C	ENSP00000393525.2:p.Ile284Leu
ENST00000442157.2:c.775A>C	ENSP00000403502.2:p.Ile259Leu
ENST00000462980.2:n.1365A>C
ENST00000472328.2:n.916A>C
ENST00000491610.2:n.810A>C
ENST00000676607.1:n.1146A>C
ENST00000676627.1:n.1580A>C
ENST00000676708.1:n.2130A>C
ENST00000676864.1:n.1999A>C
ENST00000677010.1:c.874A>C	ENSP00000503089.1:p.Ile292Leu
ENST00000677108.1:n.2833A>C
ENST00000677168.1:n.1322A>C
ENST00000677185.1:n.1413A>C
ENST00000677205.1:n.1634A>C
ENST00000677344.1:n.2124A>C
ENST00000677480.1:c.*527A>C	ENSP00000504378.1:n.*527A>C
ENST00000677519.1:n.1560A>C
ENST00000677593.1:n.1406A>C
ENST00000677740.1:n.2355A>C
ENST00000677991.1:n.2023A>C
ENST00000678001.1:n.1343A>C
ENST00000678085.1:n.1483A>C
ENST00000678177.1:n.2776A>C
ENST00000678603.1:n.1928A>C
ENST00000678724.1:c.775A>C	ENSP00000503874.1:p.Ile259Leu
ENST00000678920.1:n.1008A>C
ENST00000679019.1:n.1697A>C
ENST00000679117.1:c.*665A>C	ENSP00000503240.1:n.*665A>C
ENST00000679339.1:n.1691A>C
ENST00000326739.8:c.850A>C	ENSP00000321584.4:p.Ile284Leu
ENST00000429182.5:c.644A>C
ENST00000442157.1:c.775A>C	ENSP00000403502.1:p.Ile259Leu
ENST00000462980.1:n.752A>C
ENST00000491610.1:n.810A>C
NM_000884.2:c.850A>C	NP_000875.2:p.Ile284Leu
XM_006713128.2:c.1060A>C	XP_006713191.1:p.Ile354Leu
XM_006713128.3:c.1060A>C	XP_006713191.1:p.Ile354Leu
XM_017006349.1:c.985A>C	XP_016861838.1:p.Ile329Leu
XM_017006350.1:c.985A>C	XP_016861839.1:p.Ile329Leu
NM_000884.3:c.850A>C MANE Select	NP_000875.2:p.Ile284Leu