Canonical Allele Identifier: CA543047620

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1324640261
• gnomAD v2: 3-49064325-G-C
• gnomAD v4: 3-49026892-G-C
• MyVariant Identifiers: chr3:g.49064325G>C (hg19) ; chr3:g.49026892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026892G>C , CM000665.2:g.49026892G>C	GRCh38
NC_000003.11:g.49064325G>C , CM000665.1:g.49064325G>C	GRCh37
NC_000003.10:g.49039329G>C	NCBI36
NG_012091.1:g.7551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2660-6C>G	ENSP00000515567.1:n.2660-6C>G
ENST00000703937.1:c.*1721-6C>G	ENSP00000515568.1:n.*1721-6C>G
ENST00000326739.9:c.620-6C>G MANE Select	ENSP00000321584.4:n.620-6C>G
ENST00000429182.6:c.620-6C>G	ENSP00000393525.2:n.620-6C>G
ENST00000442157.2:c.545-6C>G	ENSP00000403502.2:n.545-6C>G
ENST00000462980.2:n.1135-6C>G
ENST00000472328.2:n.686-6C>G
ENST00000491610.2:n.574C>G
ENST00000676607.1:n.916-6C>G
ENST00000676627.1:n.1350-6C>G
ENST00000676708.1:n.1894C>G
ENST00000676864.1:n.1763C>G
ENST00000677010.1:c.656-6C>G	ENSP00000503089.1:n.656-6C>G
ENST00000677108.1:n.2520C>G
ENST00000677168.1:n.1092-6C>G
ENST00000677185.1:n.1177C>G
ENST00000677205.1:n.1398C>G
ENST00000677344.1:n.1888C>G
ENST00000677480.1:c.*297-6C>G	ENSP00000504378.1:n.*297-6C>G
ENST00000677519.1:n.1330-6C>G
ENST00000677593.1:n.1170C>G
ENST00000677740.1:n.2119C>G
ENST00000677991.1:n.1793-6C>G
ENST00000678001.1:n.1113-6C>G
ENST00000678085.1:n.1170C>G
ENST00000678177.1:n.2463C>G
ENST00000678603.1:n.1698-6C>G
ENST00000678724.1:c.545-6C>G	ENSP00000503874.1:n.545-6C>G
ENST00000678920.1:n.778-6C>G
ENST00000679019.1:n.1384C>G
ENST00000679117.1:c.*435-6C>G	ENSP00000503240.1:n.*435-6C>G
ENST00000679339.1:n.1455C>G
ENST00000326739.8:c.620-6C>G	ENSP00000321584.4:n.620-6C>G
ENST00000429182.5:c.414-6C>G
ENST00000442157.1:c.545-6C>G	ENSP00000403502.1:n.545-6C>G
ENST00000462980.1:n.522-6C>G
ENST00000491610.1:n.574C>G
NM_000884.2:c.620-6C>G	NP_000875.2:n.620-6C>G
XM_006713128.2:c.830-6C>G	XP_006713191.1:n.830-6C>G
XM_006713128.3:c.830-6C>G	XP_006713191.1:n.830-6C>G
XM_017006349.1:c.755-6C>G	XP_016861838.1:n.755-6C>G
XM_017006350.1:c.755-6C>G	XP_016861839.1:n.755-6C>G
NM_000884.3:c.620-6C>G MANE Select	NP_000875.2:n.620-6C>G