Canonical Allele Identifier: CA2390614

Gene: IMPDH2

Linked Data

• dbSNP Id: rs563276623
• ExAC: 3:49064180 A / G
• gnomAD v2: 3-49064180-A-G
• gnomAD v3: 3-49026747-A-G
• gnomAD v4: 3-49026747-A-G
• MyVariant Identifiers: chr3:g.49064180A>G (hg19) ; chr3:g.49026747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026747A>G , CM000665.2:g.49026747A>G	GRCh38
NC_000003.11:g.49064180A>G , CM000665.1:g.49064180A>G	GRCh37
NC_000003.10:g.49039184A>G	NCBI36
NG_012091.1:g.7696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2799T>C	ENSP00000515567.1:p.His933=
ENST00000703937.1:c.*1860T>C	ENSP00000515568.1:n.*1860T>C
ENST00000326739.9:c.759T>C MANE Select	ENSP00000321584.4:p.His253=
ENST00000429182.6:c.759T>C	ENSP00000393525.2:p.His253=
ENST00000442157.2:c.684T>C	ENSP00000403502.2:p.His228=
ENST00000462980.2:n.1274T>C
ENST00000472328.2:n.825T>C
ENST00000491610.2:n.719T>C
ENST00000676607.1:n.1055T>C
ENST00000676627.1:n.1489T>C
ENST00000676708.1:n.2039T>C
ENST00000676864.1:n.1908T>C
ENST00000677010.1:c.795T>C	ENSP00000503089.1:p.His265=
ENST00000677108.1:n.2665T>C
ENST00000677168.1:n.1231T>C
ENST00000677185.1:n.1322T>C
ENST00000677205.1:n.1543T>C
ENST00000677344.1:n.2033T>C
ENST00000677480.1:c.*436T>C	ENSP00000504378.1:n.*436T>C
ENST00000677519.1:n.1469T>C
ENST00000677593.1:n.1315T>C
ENST00000677740.1:n.2264T>C
ENST00000677991.1:n.1932T>C
ENST00000678001.1:n.1252T>C
ENST00000678085.1:n.1315T>C
ENST00000678177.1:n.2608T>C
ENST00000678603.1:n.1837T>C
ENST00000678724.1:c.684T>C	ENSP00000503874.1:p.His228=
ENST00000678920.1:n.917T>C
ENST00000679019.1:n.1529T>C
ENST00000679117.1:c.*574T>C	ENSP00000503240.1:n.*574T>C
ENST00000679339.1:n.1600T>C
ENST00000326739.8:c.759T>C	ENSP00000321584.4:p.His253=
ENST00000429182.5:c.553T>C
ENST00000442157.1:c.684T>C	ENSP00000403502.1:p.His228=
ENST00000462980.1:n.661T>C
ENST00000491610.1:n.719T>C
NM_000884.2:c.759T>C	NP_000875.2:p.His253=
XM_006713128.2:c.969T>C	XP_006713191.1:p.His323=
XM_006713128.3:c.969T>C	XP_006713191.1:p.His323=
XM_017006349.1:c.894T>C	XP_016861838.1:p.His298=
XM_017006350.1:c.894T>C	XP_016861839.1:p.His298=
NM_000884.3:c.759T>C MANE Select	NP_000875.2:p.His253=