Canonical Allele Identifier: CA2390640

Gene: IMPDH2

Linked Data

• dbSNP Id: rs764633847
• ExAC: 3:49064334 G / A
• gnomAD v2: 3-49064334-G-A
• gnomAD v4: 3-49026901-G-A
• MyVariant Identifiers: chr3:g.49064334G>A (hg19) ; chr3:g.49026901G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026901G>A , CM000665.2:g.49026901G>A	GRCh38
NC_000003.11:g.49064334G>A , CM000665.1:g.49064334G>A	GRCh37
NC_000003.10:g.49039338G>A	NCBI36
NG_012091.1:g.7542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2660-15C>T	ENSP00000515567.1:n.2660-15C>T
ENST00000703937.1:c.*1721-15C>T	ENSP00000515568.1:n.*1721-15C>T
ENST00000326739.9:c.620-15C>T MANE Select	ENSP00000321584.4:n.620-15C>T
ENST00000429182.6:c.620-15C>T	ENSP00000393525.2:n.620-15C>T
ENST00000442157.2:c.545-15C>T	ENSP00000403502.2:n.545-15C>T
ENST00000462980.2:n.1135-15C>T
ENST00000472328.2:n.686-15C>T
ENST00000491610.2:n.565C>T
ENST00000676607.1:n.916-15C>T
ENST00000676627.1:n.1350-15C>T
ENST00000676708.1:n.1885C>T
ENST00000676864.1:n.1754C>T
ENST00000677010.1:c.656-15C>T	ENSP00000503089.1:n.656-15C>T
ENST00000677108.1:n.2511C>T
ENST00000677168.1:n.1092-15C>T
ENST00000677185.1:n.1168C>T
ENST00000677205.1:n.1389C>T
ENST00000677344.1:n.1879C>T
ENST00000677480.1:c.*297-15C>T	ENSP00000504378.1:n.*297-15C>T
ENST00000677519.1:n.1330-15C>T
ENST00000677593.1:n.1161C>T
ENST00000677740.1:n.2110C>T
ENST00000677991.1:n.1793-15C>T
ENST00000678001.1:n.1113-15C>T
ENST00000678085.1:n.1161C>T
ENST00000678177.1:n.2454C>T
ENST00000678603.1:n.1698-15C>T
ENST00000678724.1:c.545-15C>T	ENSP00000503874.1:n.545-15C>T
ENST00000678920.1:n.778-15C>T
ENST00000679019.1:n.1375C>T
ENST00000679117.1:c.*435-15C>T	ENSP00000503240.1:n.*435-15C>T
ENST00000679339.1:n.1446C>T
ENST00000326739.8:c.620-15C>T	ENSP00000321584.4:n.620-15C>T
ENST00000429182.5:c.414-15C>T
ENST00000442157.1:c.545-15C>T	ENSP00000403502.1:n.545-15C>T
ENST00000462980.1:n.522-15C>T
ENST00000491610.1:n.565C>T
NM_000884.2:c.620-15C>T	NP_000875.2:n.620-15C>T
XM_006713128.2:c.830-15C>T	XP_006713191.1:n.830-15C>T
XM_006713128.3:c.830-15C>T	XP_006713191.1:n.830-15C>T
XM_017006349.1:c.755-15C>T	XP_016861838.1:n.755-15C>T
XM_017006350.1:c.755-15C>T	XP_016861839.1:n.755-15C>T
NM_000884.3:c.620-15C>T MANE Select	NP_000875.2:n.620-15C>T