Canonical Allele Identifier: CA2390649

Gene: IMPDH2

Linked Data

• dbSNP Id: rs368897112
• ExAC: 3:49064379 G / A
• gnomAD v2: 3-49064379-G-A
• gnomAD v4: 3-49026946-G-A
• MyVariant Identifiers: chr3:g.49064379G>A (hg19) ; chr3:g.49026946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026946G>A , CM000665.2:g.49026946G>A	GRCh38
NC_000003.11:g.49064379G>A , CM000665.1:g.49064379G>A	GRCh37
NC_000003.10:g.49039383G>A	NCBI36
NG_012091.1:g.7497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+14C>T	ENSP00000515567.1:n.2659+14C>T
ENST00000703937.1:c.*1720+14C>T	ENSP00000515568.1:n.*1720+14C>T
ENST00000326739.9:c.619+14C>T MANE Select	ENSP00000321584.4:n.619+14C>T
ENST00000429182.6:c.619+14C>T	ENSP00000393525.2:n.619+14C>T
ENST00000442157.2:c.544+14C>T	ENSP00000403502.2:n.544+14C>T
ENST00000462980.2:n.1134+14C>T
ENST00000472328.2:n.685+14C>T
ENST00000491610.2:n.520C>T
ENST00000676607.1:n.915+14C>T
ENST00000676627.1:n.1349+14C>T
ENST00000676708.1:n.1840C>T
ENST00000676864.1:n.1709C>T
ENST00000677010.1:c.655+14C>T	ENSP00000503089.1:n.655+14C>T
ENST00000677108.1:n.2466C>T
ENST00000677168.1:n.1091+14C>T
ENST00000677185.1:n.1123C>T
ENST00000677205.1:n.1344C>T
ENST00000677344.1:n.1834C>T
ENST00000677480.1:c.*296+14C>T	ENSP00000504378.1:n.*296+14C>T
ENST00000677519.1:n.1329+14C>T
ENST00000677593.1:n.1116C>T
ENST00000677740.1:n.2065C>T
ENST00000677991.1:n.1792+14C>T
ENST00000678001.1:n.1112+14C>T
ENST00000678085.1:n.1116C>T
ENST00000678177.1:n.2409C>T
ENST00000678603.1:n.1697+14C>T
ENST00000678724.1:c.544+14C>T	ENSP00000503874.1:n.544+14C>T
ENST00000678920.1:n.777+14C>T
ENST00000679019.1:n.1330C>T
ENST00000679117.1:c.*434+14C>T	ENSP00000503240.1:n.*434+14C>T
ENST00000679339.1:n.1401C>T
ENST00000326739.8:c.619+14C>T	ENSP00000321584.4:n.619+14C>T
ENST00000429182.5:c.413+14C>T
ENST00000442157.1:c.544+14C>T	ENSP00000403502.1:n.544+14C>T
ENST00000462980.1:n.521+14C>T
ENST00000491610.1:n.520C>T
NM_000884.2:c.619+14C>T	NP_000875.2:n.619+14C>T
XM_006713128.2:c.829+14C>T	XP_006713191.1:n.829+14C>T
XM_006713128.3:c.829+14C>T	XP_006713191.1:n.829+14C>T
XM_017006349.1:c.754+14C>T	XP_016861838.1:n.754+14C>T
XM_017006350.1:c.754+14C>T	XP_016861839.1:n.754+14C>T
NM_000884.3:c.619+14C>T MANE Select	NP_000875.2:n.619+14C>T