Canonical Allele Identifier: CA352740044

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064168C>A (hg19) ; chr3:g.49026735C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026735C>A , CM000665.2:g.49026735C>A	GRCh38
NC_000003.11:g.49064168C>A , CM000665.1:g.49064168C>A	GRCh37
NC_000003.10:g.49039172C>A	NCBI36
NG_012091.1:g.7708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2811G>T	ENSP00000515567.1:p.Lys937Asn
ENST00000703937.1:c.*1872G>T	ENSP00000515568.1:n.*1872G>T
ENST00000326739.9:c.771G>T MANE Select	ENSP00000321584.4:p.Lys257Asn
ENST00000429182.6:c.771G>T	ENSP00000393525.2:p.Lys257Asn
ENST00000442157.2:c.696G>T	ENSP00000403502.2:p.Lys232Asn
ENST00000462980.2:n.1286G>T
ENST00000472328.2:n.837G>T
ENST00000491610.2:n.731G>T
ENST00000676607.1:n.1067G>T
ENST00000676627.1:n.1501G>T
ENST00000676708.1:n.2051G>T
ENST00000676864.1:n.1920G>T
ENST00000677010.1:c.807G>T	ENSP00000503089.1:p.Lys269Asn
ENST00000677108.1:n.2677G>T
ENST00000677168.1:n.1243G>T
ENST00000677185.1:n.1334G>T
ENST00000677205.1:n.1555G>T
ENST00000677344.1:n.2045G>T
ENST00000677480.1:c.*448G>T	ENSP00000504378.1:n.*448G>T
ENST00000677519.1:n.1481G>T
ENST00000677593.1:n.1327G>T
ENST00000677740.1:n.2276G>T
ENST00000677991.1:n.1944G>T
ENST00000678001.1:n.1264G>T
ENST00000678085.1:n.1327G>T
ENST00000678177.1:n.2620G>T
ENST00000678603.1:n.1849G>T
ENST00000678724.1:c.696G>T	ENSP00000503874.1:p.Lys232Asn
ENST00000678920.1:n.929G>T
ENST00000679019.1:n.1541G>T
ENST00000679117.1:c.*586G>T	ENSP00000503240.1:n.*586G>T
ENST00000679339.1:n.1612G>T
ENST00000326739.8:c.771G>T	ENSP00000321584.4:p.Lys257Asn
ENST00000429182.5:c.565G>T
ENST00000442157.1:c.696G>T	ENSP00000403502.1:p.Lys232Asn
ENST00000462980.1:n.673G>T
ENST00000491610.1:n.731G>T
NM_000884.2:c.771G>T	NP_000875.2:p.Lys257Asn
XM_006713128.2:c.981G>T	XP_006713191.1:p.Lys327Asn
XM_006713128.3:c.981G>T	XP_006713191.1:p.Lys327Asn
XM_017006349.1:c.906G>T	XP_016861838.1:p.Lys302Asn
XM_017006350.1:c.906G>T	XP_016861839.1:p.Lys302Asn
NM_000884.3:c.771G>T MANE Select	NP_000875.2:p.Lys257Asn