Canonical Allele Identifier: CA74018863

Gene: IMPDH2

Linked Data

• dbSNP Id: rs965968621
• gnomAD v4: 3-49026930-T-A
• MyVariant Identifiers: chr3:g.49064363T>A (hg19) ; chr3:g.49026930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026930T>A , CM000665.2:g.49026930T>A	GRCh38
NC_000003.11:g.49064363T>A , CM000665.1:g.49064363T>A	GRCh37
NC_000003.10:g.49039367T>A	NCBI36
NG_012091.1:g.7513A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+30A>T	ENSP00000515567.1:n.2659+30A>T
ENST00000703937.1:c.*1720+30A>T	ENSP00000515568.1:n.*1720+30A>T
ENST00000326739.9:c.619+30A>T MANE Select	ENSP00000321584.4:n.619+30A>T
ENST00000429182.6:c.619+30A>T	ENSP00000393525.2:n.619+30A>T
ENST00000442157.2:c.544+30A>T	ENSP00000403502.2:n.544+30A>T
ENST00000462980.2:n.1134+30A>T
ENST00000472328.2:n.685+30A>T
ENST00000491610.2:n.536A>T
ENST00000676607.1:n.915+30A>T
ENST00000676627.1:n.1349+30A>T
ENST00000676708.1:n.1856A>T
ENST00000676864.1:n.1725A>T
ENST00000677010.1:c.655+30A>T	ENSP00000503089.1:n.655+30A>T
ENST00000677108.1:n.2482A>T
ENST00000677168.1:n.1091+30A>T
ENST00000677185.1:n.1139A>T
ENST00000677205.1:n.1360A>T
ENST00000677344.1:n.1850A>T
ENST00000677480.1:c.*296+30A>T	ENSP00000504378.1:n.*296+30A>T
ENST00000677519.1:n.1329+30A>T
ENST00000677593.1:n.1132A>T
ENST00000677740.1:n.2081A>T
ENST00000677991.1:n.1792+30A>T
ENST00000678001.1:n.1112+30A>T
ENST00000678085.1:n.1132A>T
ENST00000678177.1:n.2425A>T
ENST00000678603.1:n.1697+30A>T
ENST00000678724.1:c.544+30A>T	ENSP00000503874.1:n.544+30A>T
ENST00000678920.1:n.777+30A>T
ENST00000679019.1:n.1346A>T
ENST00000679117.1:c.*434+30A>T	ENSP00000503240.1:n.*434+30A>T
ENST00000679339.1:n.1417A>T
ENST00000326739.8:c.619+30A>T	ENSP00000321584.4:n.619+30A>T
ENST00000429182.5:c.413+30A>T
ENST00000442157.1:c.544+30A>T	ENSP00000403502.1:n.544+30A>T
ENST00000462980.1:n.521+30A>T
ENST00000491610.1:n.536A>T
NM_000884.2:c.619+30A>T	NP_000875.2:n.619+30A>T
XM_006713128.2:c.829+30A>T	XP_006713191.1:n.829+30A>T
XM_006713128.3:c.829+30A>T	XP_006713191.1:n.829+30A>T
XM_017006349.1:c.754+30A>T	XP_016861838.1:n.754+30A>T
XM_017006350.1:c.754+30A>T	XP_016861839.1:n.754+30A>T
NM_000884.3:c.619+30A>T MANE Select	NP_000875.2:n.619+30A>T