Canonical Allele Identifier: CA352740725

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064255C>A (hg19) ; chr3:g.49026822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026822C>A , CM000665.2:g.49026822C>A	GRCh38
NC_000003.11:g.49064255C>A , CM000665.1:g.49064255C>A	GRCh37
NC_000003.10:g.49039259C>A	NCBI36
NG_012091.1:g.7621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2724G>T	ENSP00000515567.1:p.Lys908Asn
ENST00000703937.1:c.*1785G>T	ENSP00000515568.1:n.*1785G>T
ENST00000326739.9:c.684G>T MANE Select	ENSP00000321584.4:p.Lys228Asn
ENST00000429182.6:c.684G>T	ENSP00000393525.2:p.Lys228Asn
ENST00000442157.2:c.609G>T	ENSP00000403502.2:p.Lys203Asn
ENST00000462980.2:n.1199G>T
ENST00000472328.2:n.750G>T
ENST00000491610.2:n.644G>T
ENST00000676607.1:n.980G>T
ENST00000676627.1:n.1414G>T
ENST00000676708.1:n.1964G>T
ENST00000676864.1:n.1833G>T
ENST00000677010.1:c.720G>T	ENSP00000503089.1:p.Lys240Asn
ENST00000677108.1:n.2590G>T
ENST00000677168.1:n.1156G>T
ENST00000677185.1:n.1247G>T
ENST00000677205.1:n.1468G>T
ENST00000677344.1:n.1958G>T
ENST00000677480.1:c.*361G>T	ENSP00000504378.1:n.*361G>T
ENST00000677519.1:n.1394G>T
ENST00000677593.1:n.1240G>T
ENST00000677740.1:n.2189G>T
ENST00000677991.1:n.1857G>T
ENST00000678001.1:n.1177G>T
ENST00000678085.1:n.1240G>T
ENST00000678177.1:n.2533G>T
ENST00000678603.1:n.1762G>T
ENST00000678724.1:c.609G>T	ENSP00000503874.1:p.Lys203Asn
ENST00000678920.1:n.842G>T
ENST00000679019.1:n.1454G>T
ENST00000679117.1:c.*499G>T	ENSP00000503240.1:n.*499G>T
ENST00000679339.1:n.1525G>T
ENST00000326739.8:c.684G>T	ENSP00000321584.4:p.Lys228Asn
ENST00000429182.5:c.478G>T
ENST00000442157.1:c.609G>T	ENSP00000403502.1:p.Lys203Asn
ENST00000462980.1:n.586G>T
ENST00000491610.1:n.644G>T
NM_000884.2:c.684G>T	NP_000875.2:p.Lys228Asn
XM_006713128.2:c.894G>T	XP_006713191.1:p.Lys298Asn
XM_006713128.3:c.894G>T	XP_006713191.1:p.Lys298Asn
XM_017006349.1:c.819G>T	XP_016861838.1:p.Lys273Asn
XM_017006350.1:c.819G>T	XP_016861839.1:p.Lys273Asn
NM_000884.3:c.684G>T MANE Select	NP_000875.2:p.Lys228Asn