Canonical Allele Identifier: CA433629506
Gene: IMPDH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49064147G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026714G>C , CM000665.2:g.49026714G>C GRCh38
NC_000003.11:g.49064147G>C , CM000665.1:g.49064147G>C GRCh37
NC_000003.10:g.49039151G>C NCBI36
NG_012091.1:g.7729C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2832C>G ENSP00000515567.1:p.Ala944=
ENST00000703937.1:c.*1893C>G ENSP00000515568.1:n.*1893C>G
ENST00000326739.9:c.792C>G MANE Select ENSP00000321584.4:p.Ala264=
ENST00000429182.6:c.792C>G ENSP00000393525.2:p.Ala264=
ENST00000442157.2:c.717C>G ENSP00000403502.2:p.Ala239=
ENST00000462980.2:n.1307C>G
ENST00000472328.2:n.858C>G
ENST00000491610.2:n.752C>G
ENST00000676607.1:n.1088C>G
ENST00000676627.1:n.1522C>G
ENST00000676708.1:n.2072C>G
ENST00000676864.1:n.1941C>G
ENST00000677010.1:c.828C>G ENSP00000503089.1:p.Ala276=
ENST00000677108.1:n.2698C>G
ENST00000677168.1:n.1264C>G
ENST00000677185.1:n.1355C>G
ENST00000677205.1:n.1576C>G
ENST00000677344.1:n.2066C>G
ENST00000677480.1:c.*469C>G ENSP00000504378.1:n.*469C>G
ENST00000677519.1:n.1502C>G
ENST00000677593.1:n.1348C>G
ENST00000677740.1:n.2297C>G
ENST00000677991.1:n.1965C>G
ENST00000678001.1:n.1285C>G
ENST00000678085.1:n.1348C>G
ENST00000678177.1:n.2641C>G
ENST00000678603.1:n.1870C>G
ENST00000678724.1:c.717C>G ENSP00000503874.1:p.Ala239=
ENST00000678920.1:n.950C>G
ENST00000679019.1:n.1562C>G
ENST00000679117.1:c.*607C>G ENSP00000503240.1:n.*607C>G
ENST00000679339.1:n.1633C>G
ENST00000326739.8:c.792C>G ENSP00000321584.4:p.Ala264=
ENST00000429182.5:c.586C>G
ENST00000442157.1:c.717C>G ENSP00000403502.1:p.Ala239=
ENST00000462980.1:n.694C>G
ENST00000491610.1:n.752C>G
NM_000884.2:c.792C>G NP_000875.2:p.Ala264=
XM_006713128.2:c.1002C>G XP_006713191.1:p.Ala334=
XM_006713128.3:c.1002C>G XP_006713191.1:p.Ala334=
XM_017006349.1:c.927C>G XP_016861838.1:p.Ala309=
XM_017006350.1:c.927C>G XP_016861839.1:p.Ala309=
NM_000884.3:c.792C>G MANE Select NP_000875.2:p.Ala264=