Canonical Allele Identifier: CA433629502

Gene: IMPDH2

Linked Data

• dbSNP Id: rs2093201183
• gnomAD v3: 3-49026708-A-G
• gnomAD v4: 3-49026708-A-G
• MyVariant Identifiers: chr3:g.49064141A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026708A>G , CM000665.2:g.49026708A>G	GRCh38
NC_000003.11:g.49064141A>G , CM000665.1:g.49064141A>G	GRCh37
NC_000003.10:g.49039145A>G	NCBI36
NG_012091.1:g.7735T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2838T>C	ENSP00000515567.1:p.Ala946=
ENST00000703937.1:c.*1899T>C	ENSP00000515568.1:n.*1899T>C
ENST00000326739.9:c.798T>C MANE Select	ENSP00000321584.4:p.Ala266=
ENST00000429182.6:c.798T>C	ENSP00000393525.2:p.Ala266=
ENST00000442157.2:c.723T>C	ENSP00000403502.2:p.Ala241=
ENST00000462980.2:n.1313T>C
ENST00000472328.2:n.864T>C
ENST00000491610.2:n.758T>C
ENST00000676607.1:n.1094T>C
ENST00000676627.1:n.1528T>C
ENST00000676708.1:n.2078T>C
ENST00000676864.1:n.1947T>C
ENST00000677010.1:c.834T>C	ENSP00000503089.1:p.Ala278=
ENST00000677108.1:n.2704T>C
ENST00000677168.1:n.1270T>C
ENST00000677185.1:n.1361T>C
ENST00000677205.1:n.1582T>C
ENST00000677344.1:n.2072T>C
ENST00000677480.1:c.*475T>C	ENSP00000504378.1:n.*475T>C
ENST00000677519.1:n.1508T>C
ENST00000677593.1:n.1354T>C
ENST00000677740.1:n.2303T>C
ENST00000677991.1:n.1971T>C
ENST00000678001.1:n.1291T>C
ENST00000678085.1:n.1354T>C
ENST00000678177.1:n.2647T>C
ENST00000678603.1:n.1876T>C
ENST00000678724.1:c.723T>C	ENSP00000503874.1:p.Ala241=
ENST00000678920.1:n.956T>C
ENST00000679019.1:n.1568T>C
ENST00000679117.1:c.*613T>C	ENSP00000503240.1:n.*613T>C
ENST00000679339.1:n.1639T>C
ENST00000326739.8:c.798T>C	ENSP00000321584.4:p.Ala266=
ENST00000429182.5:c.592T>C
ENST00000442157.1:c.723T>C	ENSP00000403502.1:p.Ala241=
ENST00000462980.1:n.700T>C
ENST00000491610.1:n.758T>C
NM_000884.2:c.798T>C	NP_000875.2:p.Ala266=
XM_006713128.2:c.1008T>C	XP_006713191.1:p.Ala336=
XM_006713128.3:c.1008T>C	XP_006713191.1:p.Ala336=
XM_017006349.1:c.933T>C	XP_016861838.1:p.Ala311=
XM_017006350.1:c.933T>C	XP_016861839.1:p.Ala311=
NM_000884.3:c.798T>C MANE Select	NP_000875.2:p.Ala266=