Canonical Allele Identifier: CA352741094

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064301T>A (hg19) ; chr3:g.49026868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026868T>A , CM000665.2:g.49026868T>A	GRCh38
NC_000003.11:g.49064301T>A , CM000665.1:g.49064301T>A	GRCh37
NC_000003.10:g.49039305T>A	NCBI36
NG_012091.1:g.7575A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2678A>T	ENSP00000515567.1:p.Asn893Ile
ENST00000703937.1:c.*1739A>T	ENSP00000515568.1:n.*1739A>T
ENST00000326739.9:c.638A>T MANE Select	ENSP00000321584.4:p.Asn213Ile
ENST00000429182.6:c.638A>T	ENSP00000393525.2:p.Asn213Ile
ENST00000442157.2:c.563A>T	ENSP00000403502.2:p.Asn188Ile
ENST00000462980.2:n.1153A>T
ENST00000472328.2:n.704A>T
ENST00000491610.2:n.598A>T
ENST00000676607.1:n.934A>T
ENST00000676627.1:n.1368A>T
ENST00000676708.1:n.1918A>T
ENST00000676864.1:n.1787A>T
ENST00000677010.1:c.674A>T	ENSP00000503089.1:p.Asn225Ile
ENST00000677108.1:n.2544A>T
ENST00000677168.1:n.1110A>T
ENST00000677185.1:n.1201A>T
ENST00000677205.1:n.1422A>T
ENST00000677344.1:n.1912A>T
ENST00000677480.1:c.*315A>T	ENSP00000504378.1:n.*315A>T
ENST00000677519.1:n.1348A>T
ENST00000677593.1:n.1194A>T
ENST00000677740.1:n.2143A>T
ENST00000677991.1:n.1811A>T
ENST00000678001.1:n.1131A>T
ENST00000678085.1:n.1194A>T
ENST00000678177.1:n.2487A>T
ENST00000678603.1:n.1716A>T
ENST00000678724.1:c.563A>T	ENSP00000503874.1:p.Asn188Ile
ENST00000678920.1:n.796A>T
ENST00000679019.1:n.1408A>T
ENST00000679117.1:c.*453A>T	ENSP00000503240.1:n.*453A>T
ENST00000679339.1:n.1479A>T
ENST00000326739.8:c.638A>T	ENSP00000321584.4:p.Asn213Ile
ENST00000429182.5:c.432A>T
ENST00000442157.1:c.563A>T	ENSP00000403502.1:p.Asn188Ile
ENST00000462980.1:n.540A>T
ENST00000491610.1:n.598A>T
NM_000884.2:c.638A>T	NP_000875.2:p.Asn213Ile
XM_006713128.2:c.848A>T	XP_006713191.1:p.Asn283Ile
XM_006713128.3:c.848A>T	XP_006713191.1:p.Asn283Ile
XM_017006349.1:c.773A>T	XP_016861838.1:p.Asn258Ile
XM_017006350.1:c.773A>T	XP_016861839.1:p.Asn258Ile
NM_000884.3:c.638A>T MANE Select	NP_000875.2:p.Asn213Ile