Canonical Allele Identifier: CA352741738

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2629G>C	ENSP00000515567.1:p.Ala877Pro
ENST00000703937.1:c.*1690G>C	ENSP00000515568.1:n.*1690G>C
ENST00000326739.9:c.589G>C MANE Select	ENSP00000321584.4:p.Ala197Pro
ENST00000429182.6:c.589G>C	ENSP00000393525.2:p.Ala197Pro
ENST00000442157.2:c.514G>C	ENSP00000403502.2:p.Ala172Pro
ENST00000462980.2:n.1104G>C
ENST00000472328.2:n.655G>C
ENST00000491610.2:n.476G>C
ENST00000676607.1:n.885G>C
ENST00000676627.1:n.1319G>C
ENST00000676708.1:n.1796G>C
ENST00000676864.1:n.1665G>C
ENST00000677010.1:c.625G>C	ENSP00000503089.1:p.Ala209Pro
ENST00000677108.1:n.2422G>C
ENST00000677168.1:n.1061G>C
ENST00000677185.1:n.1079G>C
ENST00000677205.1:n.1300G>C
ENST00000677344.1:n.1790G>C
ENST00000677480.1:c.*266G>C	ENSP00000504378.1:n.*266G>C
ENST00000677519.1:n.1299G>C
ENST00000677593.1:n.1072G>C
ENST00000677740.1:n.2021G>C
ENST00000677991.1:n.1762G>C
ENST00000678001.1:n.1082G>C
ENST00000678085.1:n.1072G>C
ENST00000678177.1:n.2365G>C
ENST00000678603.1:n.1667G>C
ENST00000678724.1:c.514G>C	ENSP00000503874.1:p.Ala172Pro
ENST00000678920.1:n.747G>C
ENST00000679019.1:n.1286G>C
ENST00000679117.1:c.*404G>C	ENSP00000503240.1:n.*404G>C
ENST00000679339.1:n.1357G>C
ENST00000326739.8:c.589G>C	ENSP00000321584.4:p.Ala197Pro
ENST00000429182.5:c.383G>C
ENST00000442157.1:c.514G>C	ENSP00000403502.1:p.Ala172Pro
ENST00000462980.1:n.491G>C
ENST00000491610.1:n.476G>C
NM_000884.2:c.589G>C	NP_000875.2:p.Ala197Pro
XM_006713128.2:c.799G>C	XP_006713191.1:p.Ala267Pro
XM_006713128.3:c.799G>C	XP_006713191.1:p.Ala267Pro
XM_017006349.1:c.724G>C	XP_016861838.1:p.Ala242Pro
XM_017006350.1:c.724G>C	XP_016861839.1:p.Ala242Pro
NM_000884.3:c.589G>C MANE Select	NP_000875.2:p.Ala197Pro