Canonical Allele Identifier: CA352740694

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064252C>G (hg19) ; chr3:g.49026819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026819C>G , CM000665.2:g.49026819C>G	GRCh38
NC_000003.11:g.49064252C>G , CM000665.1:g.49064252C>G	GRCh37
NC_000003.10:g.49039256C>G	NCBI36
NG_012091.1:g.7624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2727G>C	ENSP00000515567.1:p.Lys909Asn
ENST00000703937.1:c.*1788G>C	ENSP00000515568.1:n.*1788G>C
ENST00000326739.9:c.687G>C MANE Select	ENSP00000321584.4:p.Lys229Asn
ENST00000429182.6:c.687G>C	ENSP00000393525.2:p.Lys229Asn
ENST00000442157.2:c.612G>C	ENSP00000403502.2:p.Lys204Asn
ENST00000462980.2:n.1202G>C
ENST00000472328.2:n.753G>C
ENST00000491610.2:n.647G>C
ENST00000676607.1:n.983G>C
ENST00000676627.1:n.1417G>C
ENST00000676708.1:n.1967G>C
ENST00000676864.1:n.1836G>C
ENST00000677010.1:c.723G>C	ENSP00000503089.1:p.Lys241Asn
ENST00000677108.1:n.2593G>C
ENST00000677168.1:n.1159G>C
ENST00000677185.1:n.1250G>C
ENST00000677205.1:n.1471G>C
ENST00000677344.1:n.1961G>C
ENST00000677480.1:c.*364G>C	ENSP00000504378.1:n.*364G>C
ENST00000677519.1:n.1397G>C
ENST00000677593.1:n.1243G>C
ENST00000677740.1:n.2192G>C
ENST00000677991.1:n.1860G>C
ENST00000678001.1:n.1180G>C
ENST00000678085.1:n.1243G>C
ENST00000678177.1:n.2536G>C
ENST00000678603.1:n.1765G>C
ENST00000678724.1:c.612G>C	ENSP00000503874.1:p.Lys204Asn
ENST00000678920.1:n.845G>C
ENST00000679019.1:n.1457G>C
ENST00000679117.1:c.*502G>C	ENSP00000503240.1:n.*502G>C
ENST00000679339.1:n.1528G>C
ENST00000326739.8:c.687G>C	ENSP00000321584.4:p.Lys229Asn
ENST00000429182.5:c.481G>C
ENST00000442157.1:c.612G>C	ENSP00000403502.1:p.Lys204Asn
ENST00000462980.1:n.589G>C
ENST00000491610.1:n.647G>C
NM_000884.2:c.687G>C	NP_000875.2:p.Lys229Asn
XM_006713128.2:c.897G>C	XP_006713191.1:p.Lys299Asn
XM_006713128.3:c.897G>C	XP_006713191.1:p.Lys299Asn
XM_017006349.1:c.822G>C	XP_016861838.1:p.Lys274Asn
XM_017006350.1:c.822G>C	XP_016861839.1:p.Lys274Asn
NM_000884.3:c.687G>C MANE Select	NP_000875.2:p.Lys229Asn