Canonical Allele Identifier: CA352739896

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026710-C-G
• MyVariant Identifiers: chr3:g.49064143C>G (hg19) ; chr3:g.49026710C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026710C>G , CM000665.2:g.49026710C>G	GRCh38
NC_000003.11:g.49064143C>G , CM000665.1:g.49064143C>G	GRCh37
NC_000003.10:g.49039147C>G	NCBI36
NG_012091.1:g.7733G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2836G>C	ENSP00000515567.1:p.Ala946Pro
ENST00000703937.1:c.*1897G>C	ENSP00000515568.1:n.*1897G>C
ENST00000326739.9:c.796G>C MANE Select	ENSP00000321584.4:p.Ala266Pro
ENST00000429182.6:c.796G>C	ENSP00000393525.2:p.Ala266Pro
ENST00000442157.2:c.721G>C	ENSP00000403502.2:p.Ala241Pro
ENST00000462980.2:n.1311G>C
ENST00000472328.2:n.862G>C
ENST00000491610.2:n.756G>C
ENST00000676607.1:n.1092G>C
ENST00000676627.1:n.1526G>C
ENST00000676708.1:n.2076G>C
ENST00000676864.1:n.1945G>C
ENST00000677010.1:c.832G>C	ENSP00000503089.1:p.Ala278Pro
ENST00000677108.1:n.2702G>C
ENST00000677168.1:n.1268G>C
ENST00000677185.1:n.1359G>C
ENST00000677205.1:n.1580G>C
ENST00000677344.1:n.2070G>C
ENST00000677480.1:c.*473G>C	ENSP00000504378.1:n.*473G>C
ENST00000677519.1:n.1506G>C
ENST00000677593.1:n.1352G>C
ENST00000677740.1:n.2301G>C
ENST00000677991.1:n.1969G>C
ENST00000678001.1:n.1289G>C
ENST00000678085.1:n.1352G>C
ENST00000678177.1:n.2645G>C
ENST00000678603.1:n.1874G>C
ENST00000678724.1:c.721G>C	ENSP00000503874.1:p.Ala241Pro
ENST00000678920.1:n.954G>C
ENST00000679019.1:n.1566G>C
ENST00000679117.1:c.*611G>C	ENSP00000503240.1:n.*611G>C
ENST00000679339.1:n.1637G>C
ENST00000326739.8:c.796G>C	ENSP00000321584.4:p.Ala266Pro
ENST00000429182.5:c.590G>C
ENST00000442157.1:c.721G>C	ENSP00000403502.1:p.Ala241Pro
ENST00000462980.1:n.698G>C
ENST00000491610.1:n.756G>C
NM_000884.2:c.796G>C	NP_000875.2:p.Ala266Pro
XM_006713128.2:c.1006G>C	XP_006713191.1:p.Ala336Pro
XM_006713128.3:c.1006G>C	XP_006713191.1:p.Ala336Pro
XM_017006349.1:c.931G>C	XP_016861838.1:p.Ala311Pro
XM_017006350.1:c.931G>C	XP_016861839.1:p.Ala311Pro
NM_000884.3:c.796G>C MANE Select	NP_000875.2:p.Ala266Pro