Canonical Allele Identifier: CA352739799

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064121A>C (hg19) ; chr3:g.49026688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026688A>C , CM000665.2:g.49026688A>C	GRCh38
NC_000003.11:g.49064121A>C , CM000665.1:g.49064121A>C	GRCh37
NC_000003.10:g.49039125A>C	NCBI36
NG_012091.1:g.7755T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2858T>G	ENSP00000515567.1:p.Leu953Trp
ENST00000703937.1:c.*1919T>G	ENSP00000515568.1:n.*1919T>G
ENST00000326739.9:c.818T>G MANE Select	ENSP00000321584.4:p.Leu273Trp
ENST00000429182.6:c.818T>G	ENSP00000393525.2:p.Leu273Trp
ENST00000442157.2:c.743T>G	ENSP00000403502.2:p.Leu248Trp
ENST00000462980.2:n.1333T>G
ENST00000472328.2:n.884T>G
ENST00000491610.2:n.778T>G
ENST00000676607.1:n.1114T>G
ENST00000676627.1:n.1548T>G
ENST00000676708.1:n.2098T>G
ENST00000676864.1:n.1967T>G
ENST00000677010.1:c.854T>G	ENSP00000503089.1:p.Leu285Trp
ENST00000677108.1:n.2724T>G
ENST00000677168.1:n.1290T>G
ENST00000677185.1:n.1381T>G
ENST00000677205.1:n.1602T>G
ENST00000677344.1:n.2092T>G
ENST00000677480.1:c.*495T>G	ENSP00000504378.1:n.*495T>G
ENST00000677519.1:n.1528T>G
ENST00000677593.1:n.1374T>G
ENST00000677740.1:n.2323T>G
ENST00000677991.1:n.1991T>G
ENST00000678001.1:n.1311T>G
ENST00000678085.1:n.1374T>G
ENST00000678177.1:n.2667T>G
ENST00000678603.1:n.1896T>G
ENST00000678724.1:c.743T>G	ENSP00000503874.1:p.Leu248Trp
ENST00000678920.1:n.976T>G
ENST00000679019.1:n.1588T>G
ENST00000679117.1:c.*633T>G	ENSP00000503240.1:n.*633T>G
ENST00000679339.1:n.1659T>G
ENST00000326739.8:c.818T>G	ENSP00000321584.4:p.Leu273Trp
ENST00000429182.5:c.612T>G
ENST00000442157.1:c.743T>G	ENSP00000403502.1:p.Leu248Trp
ENST00000462980.1:n.720T>G
ENST00000491610.1:n.778T>G
NM_000884.2:c.818T>G	NP_000875.2:p.Leu273Trp
XM_006713128.2:c.1028T>G	XP_006713191.1:p.Leu343Trp
XM_006713128.3:c.1028T>G	XP_006713191.1:p.Leu343Trp
XM_017006349.1:c.953T>G	XP_016861838.1:p.Leu318Trp
XM_017006350.1:c.953T>G	XP_016861839.1:p.Leu318Trp
NM_000884.3:c.818T>G MANE Select	NP_000875.2:p.Leu273Trp