Canonical Allele Identifier: CA2390613

Gene: IMPDH2

Linked Data

• dbSNP Id: rs765026618
• ExAC: 3:49064173 C / T
• gnomAD v2: 3-49064173-C-T
• gnomAD v3: 3-49026740-C-T
• gnomAD v4: 3-49026740-C-T
• MyVariant Identifiers: chr3:g.49064173C>T (hg19) ; chr3:g.49026740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026740C>T , CM000665.2:g.49026740C>T	GRCh38
NC_000003.11:g.49064173C>T , CM000665.1:g.49064173C>T	GRCh37
NC_000003.10:g.49039177C>T	NCBI36
NG_012091.1:g.7703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2806G>A	ENSP00000515567.1:p.Asp936Asn
ENST00000703937.1:c.*1867G>A	ENSP00000515568.1:n.*1867G>A
ENST00000326739.9:c.766G>A MANE Select	ENSP00000321584.4:p.Asp256Asn
ENST00000429182.6:c.766G>A	ENSP00000393525.2:p.Asp256Asn
ENST00000442157.2:c.691G>A	ENSP00000403502.2:p.Asp231Asn
ENST00000462980.2:n.1281G>A
ENST00000472328.2:n.832G>A
ENST00000491610.2:n.726G>A
ENST00000676607.1:n.1062G>A
ENST00000676627.1:n.1496G>A
ENST00000676708.1:n.2046G>A
ENST00000676864.1:n.1915G>A
ENST00000677010.1:c.802G>A	ENSP00000503089.1:p.Asp268Asn
ENST00000677108.1:n.2672G>A
ENST00000677168.1:n.1238G>A
ENST00000677185.1:n.1329G>A
ENST00000677205.1:n.1550G>A
ENST00000677344.1:n.2040G>A
ENST00000677480.1:c.*443G>A	ENSP00000504378.1:n.*443G>A
ENST00000677519.1:n.1476G>A
ENST00000677593.1:n.1322G>A
ENST00000677740.1:n.2271G>A
ENST00000677991.1:n.1939G>A
ENST00000678001.1:n.1259G>A
ENST00000678085.1:n.1322G>A
ENST00000678177.1:n.2615G>A
ENST00000678603.1:n.1844G>A
ENST00000678724.1:c.691G>A	ENSP00000503874.1:p.Asp231Asn
ENST00000678920.1:n.924G>A
ENST00000679019.1:n.1536G>A
ENST00000679117.1:c.*581G>A	ENSP00000503240.1:n.*581G>A
ENST00000679339.1:n.1607G>A
ENST00000326739.8:c.766G>A	ENSP00000321584.4:p.Asp256Asn
ENST00000429182.5:c.560G>A
ENST00000442157.1:c.691G>A	ENSP00000403502.1:p.Asp231Asn
ENST00000462980.1:n.668G>A
ENST00000491610.1:n.726G>A
NM_000884.2:c.766G>A	NP_000875.2:p.Asp256Asn
XM_006713128.2:c.976G>A	XP_006713191.1:p.Asp326Asn
XM_006713128.3:c.976G>A	XP_006713191.1:p.Asp326Asn
XM_017006349.1:c.901G>A	XP_016861838.1:p.Asp301Asn
XM_017006350.1:c.901G>A	XP_016861839.1:p.Asp301Asn
NM_000884.3:c.766G>A MANE Select	NP_000875.2:p.Asp256Asn