Canonical Allele Identifier: CA2390647

Gene: IMPDH2

Linked Data

• dbSNP Id: rs751354119
• ExAC: 3:49064376 C / G
• gnomAD v2: 3-49064376-C-G
• gnomAD v4: 3-49026943-C-G
• MyVariant Identifiers: chr3:g.49064376C>G (hg19) ; chr3:g.49026943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026943C>G , CM000665.2:g.49026943C>G	GRCh38
NC_000003.11:g.49064376C>G , CM000665.1:g.49064376C>G	GRCh37
NC_000003.10:g.49039380C>G	NCBI36
NG_012091.1:g.7500G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+17G>C	ENSP00000515567.1:n.2659+17G>C
ENST00000703937.1:c.*1720+17G>C	ENSP00000515568.1:n.*1720+17G>C
ENST00000326739.9:c.619+17G>C MANE Select	ENSP00000321584.4:n.619+17G>C
ENST00000429182.6:c.619+17G>C	ENSP00000393525.2:n.619+17G>C
ENST00000442157.2:c.544+17G>C	ENSP00000403502.2:n.544+17G>C
ENST00000462980.2:n.1134+17G>C
ENST00000472328.2:n.685+17G>C
ENST00000491610.2:n.523G>C
ENST00000676607.1:n.915+17G>C
ENST00000676627.1:n.1349+17G>C
ENST00000676708.1:n.1843G>C
ENST00000676864.1:n.1712G>C
ENST00000677010.1:c.655+17G>C	ENSP00000503089.1:n.655+17G>C
ENST00000677108.1:n.2469G>C
ENST00000677168.1:n.1091+17G>C
ENST00000677185.1:n.1126G>C
ENST00000677205.1:n.1347G>C
ENST00000677344.1:n.1837G>C
ENST00000677480.1:c.*296+17G>C	ENSP00000504378.1:n.*296+17G>C
ENST00000677519.1:n.1329+17G>C
ENST00000677593.1:n.1119G>C
ENST00000677740.1:n.2068G>C
ENST00000677991.1:n.1792+17G>C
ENST00000678001.1:n.1112+17G>C
ENST00000678085.1:n.1119G>C
ENST00000678177.1:n.2412G>C
ENST00000678603.1:n.1697+17G>C
ENST00000678724.1:c.544+17G>C	ENSP00000503874.1:n.544+17G>C
ENST00000678920.1:n.777+17G>C
ENST00000679019.1:n.1333G>C
ENST00000679117.1:c.*434+17G>C	ENSP00000503240.1:n.*434+17G>C
ENST00000679339.1:n.1404G>C
ENST00000326739.8:c.619+17G>C	ENSP00000321584.4:n.619+17G>C
ENST00000429182.5:c.413+17G>C
ENST00000442157.1:c.544+17G>C	ENSP00000403502.1:n.544+17G>C
ENST00000462980.1:n.521+17G>C
ENST00000491610.1:n.523G>C
NM_000884.2:c.619+17G>C	NP_000875.2:n.619+17G>C
XM_006713128.2:c.829+17G>C	XP_006713191.1:n.829+17G>C
XM_006713128.3:c.829+17G>C	XP_006713191.1:n.829+17G>C
XM_017006349.1:c.754+17G>C	XP_016861838.1:n.754+17G>C
XM_017006350.1:c.754+17G>C	XP_016861839.1:n.754+17G>C
NM_000884.3:c.619+17G>C MANE Select	NP_000875.2:n.619+17G>C