Canonical Allele Identifier: CA74018759

Gene: IMPDH2

Linked Data

• dbSNP Id: rs11557544
• gnomAD v4: 3-49026786-G-A
• MyVariant Identifiers: chr3:g.49064219G>A (hg19) ; chr3:g.49026786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026786G>A , CM000665.2:g.49026786G>A	GRCh38
NC_000003.11:g.49064219G>A , CM000665.1:g.49064219G>A	GRCh37
NC_000003.10:g.49039223G>A	NCBI36
NG_012091.1:g.7657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2760C>T	ENSP00000515567.1:p.Ala920=
ENST00000703937.1:c.*1821C>T	ENSP00000515568.1:n.*1821C>T
ENST00000326739.9:c.720C>T MANE Select	ENSP00000321584.4:p.Ala240=
ENST00000429182.6:c.720C>T	ENSP00000393525.2:p.Ala240=
ENST00000442157.2:c.645C>T	ENSP00000403502.2:p.Ala215=
ENST00000462980.2:n.1235C>T
ENST00000472328.2:n.786C>T
ENST00000491610.2:n.680C>T
ENST00000676607.1:n.1016C>T
ENST00000676627.1:n.1450C>T
ENST00000676708.1:n.2000C>T
ENST00000676864.1:n.1869C>T
ENST00000677010.1:c.756C>T	ENSP00000503089.1:p.Ala252=
ENST00000677108.1:n.2626C>T
ENST00000677168.1:n.1192C>T
ENST00000677185.1:n.1283C>T
ENST00000677205.1:n.1504C>T
ENST00000677344.1:n.1994C>T
ENST00000677480.1:c.*397C>T	ENSP00000504378.1:n.*397C>T
ENST00000677519.1:n.1430C>T
ENST00000677593.1:n.1276C>T
ENST00000677740.1:n.2225C>T
ENST00000677991.1:n.1893C>T
ENST00000678001.1:n.1213C>T
ENST00000678085.1:n.1276C>T
ENST00000678177.1:n.2569C>T
ENST00000678603.1:n.1798C>T
ENST00000678724.1:c.645C>T	ENSP00000503874.1:p.Ala215=
ENST00000678920.1:n.878C>T
ENST00000679019.1:n.1490C>T
ENST00000679117.1:c.*535C>T	ENSP00000503240.1:n.*535C>T
ENST00000679339.1:n.1561C>T
ENST00000326739.8:c.720C>T	ENSP00000321584.4:p.Ala240=
ENST00000429182.5:c.514C>T
ENST00000442157.1:c.645C>T	ENSP00000403502.1:p.Ala215=
ENST00000462980.1:n.622C>T
ENST00000491610.1:n.680C>T
NM_000884.2:c.720C>T	NP_000875.2:p.Ala240=
XM_006713128.2:c.930C>T	XP_006713191.1:p.Ala310=
XM_006713128.3:c.930C>T	XP_006713191.1:p.Ala310=
XM_017006349.1:c.855C>T	XP_016861838.1:p.Ala285=
XM_017006350.1:c.855C>T	XP_016861839.1:p.Ala285=
NM_000884.3:c.720C>T MANE Select	NP_000875.2:p.Ala240=