Canonical Allele Identifier: CA352740451

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064223T>G (hg19) ; chr3:g.49026790T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026790T>G , CM000665.2:g.49026790T>G	GRCh38
NC_000003.11:g.49064223T>G , CM000665.1:g.49064223T>G	GRCh37
NC_000003.10:g.49039227T>G	NCBI36
NG_012091.1:g.7653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2756A>C	ENSP00000515567.1:p.Asp919Ala
ENST00000703937.1:c.*1817A>C	ENSP00000515568.1:n.*1817A>C
ENST00000326739.9:c.716A>C MANE Select	ENSP00000321584.4:p.Asp239Ala
ENST00000429182.6:c.716A>C	ENSP00000393525.2:p.Asp239Ala
ENST00000442157.2:c.641A>C	ENSP00000403502.2:p.Asp214Ala
ENST00000462980.2:n.1231A>C
ENST00000472328.2:n.782A>C
ENST00000491610.2:n.676A>C
ENST00000676607.1:n.1012A>C
ENST00000676627.1:n.1446A>C
ENST00000676708.1:n.1996A>C
ENST00000676864.1:n.1865A>C
ENST00000677010.1:c.752A>C	ENSP00000503089.1:p.Asp251Ala
ENST00000677108.1:n.2622A>C
ENST00000677168.1:n.1188A>C
ENST00000677185.1:n.1279A>C
ENST00000677205.1:n.1500A>C
ENST00000677344.1:n.1990A>C
ENST00000677480.1:c.*393A>C	ENSP00000504378.1:n.*393A>C
ENST00000677519.1:n.1426A>C
ENST00000677593.1:n.1272A>C
ENST00000677740.1:n.2221A>C
ENST00000677991.1:n.1889A>C
ENST00000678001.1:n.1209A>C
ENST00000678085.1:n.1272A>C
ENST00000678177.1:n.2565A>C
ENST00000678603.1:n.1794A>C
ENST00000678724.1:c.641A>C	ENSP00000503874.1:p.Asp214Ala
ENST00000678920.1:n.874A>C
ENST00000679019.1:n.1486A>C
ENST00000679117.1:c.*531A>C	ENSP00000503240.1:n.*531A>C
ENST00000679339.1:n.1557A>C
ENST00000326739.8:c.716A>C	ENSP00000321584.4:p.Asp239Ala
ENST00000429182.5:c.510A>C
ENST00000442157.1:c.641A>C	ENSP00000403502.1:p.Asp214Ala
ENST00000462980.1:n.618A>C
ENST00000491610.1:n.676A>C
NM_000884.2:c.716A>C	NP_000875.2:p.Asp239Ala
XM_006713128.2:c.926A>C	XP_006713191.1:p.Asp309Ala
XM_006713128.3:c.926A>C	XP_006713191.1:p.Asp309Ala
XM_017006349.1:c.851A>C	XP_016861838.1:p.Asp284Ala
XM_017006350.1:c.851A>C	XP_016861839.1:p.Asp284Ala
NM_000884.3:c.716A>C MANE Select	NP_000875.2:p.Asp239Ala