Canonical Allele Identifier: CA352739796

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064120C>G (hg19) ; chr3:g.49026687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026687C>G , CM000665.2:g.49026687C>G	GRCh38
NC_000003.11:g.49064120C>G , CM000665.1:g.49064120C>G	GRCh37
NC_000003.10:g.49039124C>G	NCBI36
NG_012091.1:g.7756G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2859G>C	ENSP00000515567.1:p.Leu953Phe
ENST00000703937.1:c.*1920G>C	ENSP00000515568.1:n.*1920G>C
ENST00000326739.9:c.819G>C MANE Select	ENSP00000321584.4:p.Leu273Phe
ENST00000429182.6:c.819G>C	ENSP00000393525.2:p.Leu273Phe
ENST00000442157.2:c.744G>C	ENSP00000403502.2:p.Leu248Phe
ENST00000462980.2:n.1334G>C
ENST00000472328.2:n.885G>C
ENST00000491610.2:n.779G>C
ENST00000676607.1:n.1115G>C
ENST00000676627.1:n.1549G>C
ENST00000676708.1:n.2099G>C
ENST00000676864.1:n.1968G>C
ENST00000677010.1:c.855G>C	ENSP00000503089.1:p.Leu285Phe
ENST00000677108.1:n.2725G>C
ENST00000677168.1:n.1291G>C
ENST00000677185.1:n.1382G>C
ENST00000677205.1:n.1603G>C
ENST00000677344.1:n.2093G>C
ENST00000677480.1:c.*496G>C	ENSP00000504378.1:n.*496G>C
ENST00000677519.1:n.1529G>C
ENST00000677593.1:n.1375G>C
ENST00000677740.1:n.2324G>C
ENST00000677991.1:n.1992G>C
ENST00000678001.1:n.1312G>C
ENST00000678085.1:n.1375G>C
ENST00000678177.1:n.2668G>C
ENST00000678603.1:n.1897G>C
ENST00000678724.1:c.744G>C	ENSP00000503874.1:p.Leu248Phe
ENST00000678920.1:n.977G>C
ENST00000679019.1:n.1589G>C
ENST00000679117.1:c.*634G>C	ENSP00000503240.1:n.*634G>C
ENST00000679339.1:n.1660G>C
ENST00000326739.8:c.819G>C	ENSP00000321584.4:p.Leu273Phe
ENST00000429182.5:c.613G>C
ENST00000442157.1:c.744G>C	ENSP00000403502.1:p.Leu248Phe
ENST00000462980.1:n.721G>C
ENST00000491610.1:n.779G>C
NM_000884.2:c.819G>C	NP_000875.2:p.Leu273Phe
XM_006713128.2:c.1029G>C	XP_006713191.1:p.Leu343Phe
XM_006713128.3:c.1029G>C	XP_006713191.1:p.Leu343Phe
XM_017006349.1:c.954G>C	XP_016861838.1:p.Leu318Phe
XM_017006350.1:c.954G>C	XP_016861839.1:p.Leu318Phe
NM_000884.3:c.819G>C MANE Select	NP_000875.2:p.Leu273Phe