Canonical Allele Identifier: CA352741735

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064423C>A (hg19) ; chr3:g.49026990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026990C>A , CM000665.2:g.49026990C>A	GRCh38
NC_000003.11:g.49064423C>A , CM000665.1:g.49064423C>A	GRCh37
NC_000003.10:g.49039427C>A	NCBI36
NG_012091.1:g.7453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2629G>T	ENSP00000515567.1:p.Ala877Ser
ENST00000703937.1:c.*1690G>T	ENSP00000515568.1:n.*1690G>T
ENST00000326739.9:c.589G>T MANE Select	ENSP00000321584.4:p.Ala197Ser
ENST00000429182.6:c.589G>T	ENSP00000393525.2:p.Ala197Ser
ENST00000442157.2:c.514G>T	ENSP00000403502.2:p.Ala172Ser
ENST00000462980.2:n.1104G>T
ENST00000472328.2:n.655G>T
ENST00000491610.2:n.476G>T
ENST00000676607.1:n.885G>T
ENST00000676627.1:n.1319G>T
ENST00000676708.1:n.1796G>T
ENST00000676864.1:n.1665G>T
ENST00000677010.1:c.625G>T	ENSP00000503089.1:p.Ala209Ser
ENST00000677108.1:n.2422G>T
ENST00000677168.1:n.1061G>T
ENST00000677185.1:n.1079G>T
ENST00000677205.1:n.1300G>T
ENST00000677344.1:n.1790G>T
ENST00000677480.1:c.*266G>T	ENSP00000504378.1:n.*266G>T
ENST00000677519.1:n.1299G>T
ENST00000677593.1:n.1072G>T
ENST00000677740.1:n.2021G>T
ENST00000677991.1:n.1762G>T
ENST00000678001.1:n.1082G>T
ENST00000678085.1:n.1072G>T
ENST00000678177.1:n.2365G>T
ENST00000678603.1:n.1667G>T
ENST00000678724.1:c.514G>T	ENSP00000503874.1:p.Ala172Ser
ENST00000678920.1:n.747G>T
ENST00000679019.1:n.1286G>T
ENST00000679117.1:c.*404G>T	ENSP00000503240.1:n.*404G>T
ENST00000679339.1:n.1357G>T
ENST00000326739.8:c.589G>T	ENSP00000321584.4:p.Ala197Ser
ENST00000429182.5:c.383G>T
ENST00000442157.1:c.514G>T	ENSP00000403502.1:p.Ala172Ser
ENST00000462980.1:n.491G>T
ENST00000491610.1:n.476G>T
NM_000884.2:c.589G>T	NP_000875.2:p.Ala197Ser
XM_006713128.2:c.799G>T	XP_006713191.1:p.Ala267Ser
XM_006713128.3:c.799G>T	XP_006713191.1:p.Ala267Ser
XM_017006349.1:c.724G>T	XP_016861838.1:p.Ala242Ser
XM_017006350.1:c.724G>T	XP_016861839.1:p.Ala242Ser
NM_000884.3:c.589G>T MANE Select	NP_000875.2:p.Ala197Ser