Canonical Allele Identifier: CA352741721

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064422G>A (hg19) ; chr3:g.49026989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026989G>A , CM000665.2:g.49026989G>A	GRCh38
NC_000003.11:g.49064422G>A , CM000665.1:g.49064422G>A	GRCh37
NC_000003.10:g.49039426G>A	NCBI36
NG_012091.1:g.7454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2630C>T	ENSP00000515567.1:p.Ala877Val
ENST00000703937.1:c.*1691C>T	ENSP00000515568.1:n.*1691C>T
ENST00000326739.9:c.590C>T MANE Select	ENSP00000321584.4:p.Ala197Val
ENST00000429182.6:c.590C>T	ENSP00000393525.2:p.Ala197Val
ENST00000442157.2:c.515C>T	ENSP00000403502.2:p.Ala172Val
ENST00000462980.2:n.1105C>T
ENST00000472328.2:n.656C>T
ENST00000491610.2:n.477C>T
ENST00000676607.1:n.886C>T
ENST00000676627.1:n.1320C>T
ENST00000676708.1:n.1797C>T
ENST00000676864.1:n.1666C>T
ENST00000677010.1:c.626C>T	ENSP00000503089.1:p.Ala209Val
ENST00000677108.1:n.2423C>T
ENST00000677168.1:n.1062C>T
ENST00000677185.1:n.1080C>T
ENST00000677205.1:n.1301C>T
ENST00000677344.1:n.1791C>T
ENST00000677480.1:c.*267C>T	ENSP00000504378.1:n.*267C>T
ENST00000677519.1:n.1300C>T
ENST00000677593.1:n.1073C>T
ENST00000677740.1:n.2022C>T
ENST00000677991.1:n.1763C>T
ENST00000678001.1:n.1083C>T
ENST00000678085.1:n.1073C>T
ENST00000678177.1:n.2366C>T
ENST00000678603.1:n.1668C>T
ENST00000678724.1:c.515C>T	ENSP00000503874.1:p.Ala172Val
ENST00000678920.1:n.748C>T
ENST00000679019.1:n.1287C>T
ENST00000679117.1:c.*405C>T	ENSP00000503240.1:n.*405C>T
ENST00000679339.1:n.1358C>T
ENST00000326739.8:c.590C>T	ENSP00000321584.4:p.Ala197Val
ENST00000429182.5:c.384C>T
ENST00000442157.1:c.515C>T	ENSP00000403502.1:p.Ala172Val
ENST00000462980.1:n.492C>T
ENST00000491610.1:n.477C>T
NM_000884.2:c.590C>T	NP_000875.2:p.Ala197Val
XM_006713128.2:c.800C>T	XP_006713191.1:p.Ala267Val
XM_006713128.3:c.800C>T	XP_006713191.1:p.Ala267Val
XM_017006349.1:c.725C>T	XP_016861838.1:p.Ala242Val
XM_017006350.1:c.725C>T	XP_016861839.1:p.Ala242Val
NM_000884.3:c.590C>T MANE Select	NP_000875.2:p.Ala197Val