Canonical Allele Identifier: CA352741679

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064419T>A (hg19) ; chr3:g.49026986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026986T>A , CM000665.2:g.49026986T>A	GRCh38
NC_000003.11:g.49064419T>A , CM000665.1:g.49064419T>A	GRCh37
NC_000003.10:g.49039423T>A	NCBI36
NG_012091.1:g.7457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2633A>T	ENSP00000515567.1:p.Asn878Ile
ENST00000703937.1:c.*1694A>T	ENSP00000515568.1:n.*1694A>T
ENST00000326739.9:c.593A>T MANE Select	ENSP00000321584.4:p.Asn198Ile
ENST00000429182.6:c.593A>T	ENSP00000393525.2:p.Asn198Ile
ENST00000442157.2:c.518A>T	ENSP00000403502.2:p.Asn173Ile
ENST00000462980.2:n.1108A>T
ENST00000472328.2:n.659A>T
ENST00000491610.2:n.480A>T
ENST00000676607.1:n.889A>T
ENST00000676627.1:n.1323A>T
ENST00000676708.1:n.1800A>T
ENST00000676864.1:n.1669A>T
ENST00000677010.1:c.629A>T	ENSP00000503089.1:p.Asn210Ile
ENST00000677108.1:n.2426A>T
ENST00000677168.1:n.1065A>T
ENST00000677185.1:n.1083A>T
ENST00000677205.1:n.1304A>T
ENST00000677344.1:n.1794A>T
ENST00000677480.1:c.*270A>T	ENSP00000504378.1:n.*270A>T
ENST00000677519.1:n.1303A>T
ENST00000677593.1:n.1076A>T
ENST00000677740.1:n.2025A>T
ENST00000677991.1:n.1766A>T
ENST00000678001.1:n.1086A>T
ENST00000678085.1:n.1076A>T
ENST00000678177.1:n.2369A>T
ENST00000678603.1:n.1671A>T
ENST00000678724.1:c.518A>T	ENSP00000503874.1:p.Asn173Ile
ENST00000678920.1:n.751A>T
ENST00000679019.1:n.1290A>T
ENST00000679117.1:c.*408A>T	ENSP00000503240.1:n.*408A>T
ENST00000679339.1:n.1361A>T
ENST00000326739.8:c.593A>T	ENSP00000321584.4:p.Asn198Ile
ENST00000429182.5:c.387A>T
ENST00000442157.1:c.518A>T	ENSP00000403502.1:p.Asn173Ile
ENST00000462980.1:n.495A>T
ENST00000491610.1:n.480A>T
NM_000884.2:c.593A>T	NP_000875.2:p.Asn198Ile
XM_006713128.2:c.803A>T	XP_006713191.1:p.Asn268Ile
XM_006713128.3:c.803A>T	XP_006713191.1:p.Asn268Ile
XM_017006349.1:c.728A>T	XP_016861838.1:p.Asn243Ile
XM_017006350.1:c.728A>T	XP_016861839.1:p.Asn243Ile
NM_000884.3:c.593A>T MANE Select	NP_000875.2:p.Asn198Ile