Canonical Allele Identifier: CA352741609

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064406C>A (hg19) ; chr3:g.49026973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026973C>A , CM000665.2:g.49026973C>A	GRCh38
NC_000003.11:g.49064406C>A , CM000665.1:g.49064406C>A	GRCh37
NC_000003.10:g.49039410C>A	NCBI36
NG_012091.1:g.7470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2646G>T	ENSP00000515567.1:p.Gln882His
ENST00000703937.1:c.*1707G>T	ENSP00000515568.1:n.*1707G>T
ENST00000326739.9:c.606G>T MANE Select	ENSP00000321584.4:p.Gln202His
ENST00000429182.6:c.606G>T	ENSP00000393525.2:p.Gln202His
ENST00000442157.2:c.531G>T	ENSP00000403502.2:p.Gln177His
ENST00000462980.2:n.1121G>T
ENST00000472328.2:n.672G>T
ENST00000491610.2:n.493G>T
ENST00000676607.1:n.902G>T
ENST00000676627.1:n.1336G>T
ENST00000676708.1:n.1813G>T
ENST00000676864.1:n.1682G>T
ENST00000677010.1:c.642G>T	ENSP00000503089.1:p.Gln214His
ENST00000677108.1:n.2439G>T
ENST00000677168.1:n.1078G>T
ENST00000677185.1:n.1096G>T
ENST00000677205.1:n.1317G>T
ENST00000677344.1:n.1807G>T
ENST00000677480.1:c.*283G>T	ENSP00000504378.1:n.*283G>T
ENST00000677519.1:n.1316G>T
ENST00000677593.1:n.1089G>T
ENST00000677740.1:n.2038G>T
ENST00000677991.1:n.1779G>T
ENST00000678001.1:n.1099G>T
ENST00000678085.1:n.1089G>T
ENST00000678177.1:n.2382G>T
ENST00000678603.1:n.1684G>T
ENST00000678724.1:c.531G>T	ENSP00000503874.1:p.Gln177His
ENST00000678920.1:n.764G>T
ENST00000679019.1:n.1303G>T
ENST00000679117.1:c.*421G>T	ENSP00000503240.1:n.*421G>T
ENST00000679339.1:n.1374G>T
ENST00000326739.8:c.606G>T	ENSP00000321584.4:p.Gln202His
ENST00000429182.5:c.400G>T
ENST00000442157.1:c.531G>T	ENSP00000403502.1:p.Gln177His
ENST00000462980.1:n.508G>T
ENST00000491610.1:n.493G>T
NM_000884.2:c.606G>T	NP_000875.2:p.Gln202His
XM_006713128.2:c.816G>T	XP_006713191.1:p.Gln272His
XM_006713128.3:c.816G>T	XP_006713191.1:p.Gln272His
XM_017006349.1:c.741G>T	XP_016861838.1:p.Gln247His
XM_017006350.1:c.741G>T	XP_016861839.1:p.Gln247His
NM_000884.3:c.606G>T MANE Select	NP_000875.2:p.Gln202His