Canonical Allele Identifier: CA2390650

Gene: IMPDH2

Linked Data

• dbSNP Id: rs748028340
• ExAC: 3:49064383 T / C
• gnomAD v2: 3-49064383-T-C
• gnomAD v3: 3-49026950-T-C
• gnomAD v4: 3-49026950-T-C
• MyVariant Identifiers: chr3:g.49064383T>C (hg19) ; chr3:g.49026950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026950T>C , CM000665.2:g.49026950T>C	GRCh38
NC_000003.11:g.49064383T>C , CM000665.1:g.49064383T>C	GRCh37
NC_000003.10:g.49039387T>C	NCBI36
NG_012091.1:g.7493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+10A>G	ENSP00000515567.1:n.2659+10A>G
ENST00000703937.1:c.*1720+10A>G	ENSP00000515568.1:n.*1720+10A>G
ENST00000326739.9:c.619+10A>G MANE Select	ENSP00000321584.4:n.619+10A>G
ENST00000429182.6:c.619+10A>G	ENSP00000393525.2:n.619+10A>G
ENST00000442157.2:c.544+10A>G	ENSP00000403502.2:n.544+10A>G
ENST00000462980.2:n.1134+10A>G
ENST00000472328.2:n.685+10A>G
ENST00000491610.2:n.516A>G
ENST00000676607.1:n.915+10A>G
ENST00000676627.1:n.1349+10A>G
ENST00000676708.1:n.1836A>G
ENST00000676864.1:n.1705A>G
ENST00000677010.1:c.655+10A>G	ENSP00000503089.1:n.655+10A>G
ENST00000677108.1:n.2462A>G
ENST00000677168.1:n.1091+10A>G
ENST00000677185.1:n.1119A>G
ENST00000677205.1:n.1340A>G
ENST00000677344.1:n.1830A>G
ENST00000677480.1:c.*296+10A>G	ENSP00000504378.1:n.*296+10A>G
ENST00000677519.1:n.1329+10A>G
ENST00000677593.1:n.1112A>G
ENST00000677740.1:n.2061A>G
ENST00000677991.1:n.1792+10A>G
ENST00000678001.1:n.1112+10A>G
ENST00000678085.1:n.1112A>G
ENST00000678177.1:n.2405A>G
ENST00000678603.1:n.1697+10A>G
ENST00000678724.1:c.544+10A>G	ENSP00000503874.1:n.544+10A>G
ENST00000678920.1:n.777+10A>G
ENST00000679019.1:n.1326A>G
ENST00000679117.1:c.*434+10A>G	ENSP00000503240.1:n.*434+10A>G
ENST00000679339.1:n.1397A>G
ENST00000326739.8:c.619+10A>G	ENSP00000321584.4:n.619+10A>G
ENST00000429182.5:c.413+10A>G
ENST00000442157.1:c.544+10A>G	ENSP00000403502.1:n.544+10A>G
ENST00000462980.1:n.521+10A>G
ENST00000491610.1:n.516A>G
NM_000884.2:c.619+10A>G	NP_000875.2:n.619+10A>G
XM_006713128.2:c.829+10A>G	XP_006713191.1:n.829+10A>G
XM_006713128.3:c.829+10A>G	XP_006713191.1:n.829+10A>G
XM_017006349.1:c.754+10A>G	XP_016861838.1:n.754+10A>G
XM_017006350.1:c.754+10A>G	XP_016861839.1:n.754+10A>G
NM_000884.3:c.619+10A>G MANE Select	NP_000875.2:n.619+10A>G