Canonical Allele Identifier: CA352741710

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064420T>G (hg19) ; chr3:g.49026987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026987T>G , CM000665.2:g.49026987T>G	GRCh38
NC_000003.11:g.49064420T>G , CM000665.1:g.49064420T>G	GRCh37
NC_000003.10:g.49039424T>G	NCBI36
NG_012091.1:g.7456A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2632A>C	ENSP00000515567.1:p.Asn878His
ENST00000703937.1:c.*1693A>C	ENSP00000515568.1:n.*1693A>C
ENST00000326739.9:c.592A>C MANE Select	ENSP00000321584.4:p.Asn198His
ENST00000429182.6:c.592A>C	ENSP00000393525.2:p.Asn198His
ENST00000442157.2:c.517A>C	ENSP00000403502.2:p.Asn173His
ENST00000462980.2:n.1107A>C
ENST00000472328.2:n.658A>C
ENST00000491610.2:n.479A>C
ENST00000676607.1:n.888A>C
ENST00000676627.1:n.1322A>C
ENST00000676708.1:n.1799A>C
ENST00000676864.1:n.1668A>C
ENST00000677010.1:c.628A>C	ENSP00000503089.1:p.Asn210His
ENST00000677108.1:n.2425A>C
ENST00000677168.1:n.1064A>C
ENST00000677185.1:n.1082A>C
ENST00000677205.1:n.1303A>C
ENST00000677344.1:n.1793A>C
ENST00000677480.1:c.*269A>C	ENSP00000504378.1:n.*269A>C
ENST00000677519.1:n.1302A>C
ENST00000677593.1:n.1075A>C
ENST00000677740.1:n.2024A>C
ENST00000677991.1:n.1765A>C
ENST00000678001.1:n.1085A>C
ENST00000678085.1:n.1075A>C
ENST00000678177.1:n.2368A>C
ENST00000678603.1:n.1670A>C
ENST00000678724.1:c.517A>C	ENSP00000503874.1:p.Asn173His
ENST00000678920.1:n.750A>C
ENST00000679019.1:n.1289A>C
ENST00000679117.1:c.*407A>C	ENSP00000503240.1:n.*407A>C
ENST00000679339.1:n.1360A>C
ENST00000326739.8:c.592A>C	ENSP00000321584.4:p.Asn198His
ENST00000429182.5:c.386A>C
ENST00000442157.1:c.517A>C	ENSP00000403502.1:p.Asn173His
ENST00000462980.1:n.494A>C
ENST00000491610.1:n.479A>C
NM_000884.2:c.592A>C	NP_000875.2:p.Asn198His
XM_006713128.2:c.802A>C	XP_006713191.1:p.Asn268His
XM_006713128.3:c.802A>C	XP_006713191.1:p.Asn268His
XM_017006349.1:c.727A>C	XP_016861838.1:p.Asn243His
XM_017006350.1:c.727A>C	XP_016861839.1:p.Asn243His
NM_000884.3:c.592A>C MANE Select	NP_000875.2:p.Asn198His