Canonical Allele Identifier: CA352740327

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064210C>A (hg19) ; chr3:g.49026777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026777C>A , CM000665.2:g.49026777C>A	GRCh38
NC_000003.11:g.49064210C>A , CM000665.1:g.49064210C>A	GRCh37
NC_000003.10:g.49039214C>A	NCBI36
NG_012091.1:g.7666G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2769G>T	ENSP00000515567.1:p.Gln923His
ENST00000703937.1:c.*1830G>T	ENSP00000515568.1:n.*1830G>T
ENST00000326739.9:c.729G>T MANE Select	ENSP00000321584.4:p.Gln243His
ENST00000429182.6:c.729G>T	ENSP00000393525.2:p.Gln243His
ENST00000442157.2:c.654G>T	ENSP00000403502.2:p.Gln218His
ENST00000462980.2:n.1244G>T
ENST00000472328.2:n.795G>T
ENST00000491610.2:n.689G>T
ENST00000676607.1:n.1025G>T
ENST00000676627.1:n.1459G>T
ENST00000676708.1:n.2009G>T
ENST00000676864.1:n.1878G>T
ENST00000677010.1:c.765G>T	ENSP00000503089.1:p.Gln255His
ENST00000677108.1:n.2635G>T
ENST00000677168.1:n.1201G>T
ENST00000677185.1:n.1292G>T
ENST00000677205.1:n.1513G>T
ENST00000677344.1:n.2003G>T
ENST00000677480.1:c.*406G>T	ENSP00000504378.1:n.*406G>T
ENST00000677519.1:n.1439G>T
ENST00000677593.1:n.1285G>T
ENST00000677740.1:n.2234G>T
ENST00000677991.1:n.1902G>T
ENST00000678001.1:n.1222G>T
ENST00000678085.1:n.1285G>T
ENST00000678177.1:n.2578G>T
ENST00000678603.1:n.1807G>T
ENST00000678724.1:c.654G>T	ENSP00000503874.1:p.Gln218His
ENST00000678920.1:n.887G>T
ENST00000679019.1:n.1499G>T
ENST00000679117.1:c.*544G>T	ENSP00000503240.1:n.*544G>T
ENST00000679339.1:n.1570G>T
ENST00000326739.8:c.729G>T	ENSP00000321584.4:p.Gln243His
ENST00000429182.5:c.523G>T
ENST00000442157.1:c.654G>T	ENSP00000403502.1:p.Gln218His
ENST00000462980.1:n.631G>T
ENST00000491610.1:n.689G>T
NM_000884.2:c.729G>T	NP_000875.2:p.Gln243His
XM_006713128.2:c.939G>T	XP_006713191.1:p.Gln313His
XM_006713128.3:c.939G>T	XP_006713191.1:p.Gln313His
XM_017006349.1:c.864G>T	XP_016861838.1:p.Gln288His
XM_017006350.1:c.864G>T	XP_016861839.1:p.Gln288His
NM_000884.3:c.729G>T MANE Select	NP_000875.2:p.Gln243His