Canonical Allele Identifier: CA352740294

Gene: IMPDH2

Linked Data

• dbSNP Id: rs2093201521
• gnomAD v3: 3-49026769-C-A
• gnomAD v4: 3-49026769-C-A
• MyVariant Identifiers: chr3:g.49064202C>A (hg19) ; chr3:g.49026769C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026769C>A , CM000665.2:g.49026769C>A	GRCh38
NC_000003.11:g.49064202C>A , CM000665.1:g.49064202C>A	GRCh37
NC_000003.10:g.49039206C>A	NCBI36
NG_012091.1:g.7674G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2777G>T	ENSP00000515567.1:p.Cys926Phe
ENST00000703937.1:c.*1838G>T	ENSP00000515568.1:n.*1838G>T
ENST00000326739.9:c.737G>T MANE Select	ENSP00000321584.4:p.Cys246Phe
ENST00000429182.6:c.737G>T	ENSP00000393525.2:p.Cys246Phe
ENST00000442157.2:c.662G>T	ENSP00000403502.2:p.Cys221Phe
ENST00000462980.2:n.1252G>T
ENST00000472328.2:n.803G>T
ENST00000491610.2:n.697G>T
ENST00000676607.1:n.1033G>T
ENST00000676627.1:n.1467G>T
ENST00000676708.1:n.2017G>T
ENST00000676864.1:n.1886G>T
ENST00000677010.1:c.773G>T	ENSP00000503089.1:p.Cys258Phe
ENST00000677108.1:n.2643G>T
ENST00000677168.1:n.1209G>T
ENST00000677185.1:n.1300G>T
ENST00000677205.1:n.1521G>T
ENST00000677344.1:n.2011G>T
ENST00000677480.1:c.*414G>T	ENSP00000504378.1:n.*414G>T
ENST00000677519.1:n.1447G>T
ENST00000677593.1:n.1293G>T
ENST00000677740.1:n.2242G>T
ENST00000677991.1:n.1910G>T
ENST00000678001.1:n.1230G>T
ENST00000678085.1:n.1293G>T
ENST00000678177.1:n.2586G>T
ENST00000678603.1:n.1815G>T
ENST00000678724.1:c.662G>T	ENSP00000503874.1:p.Cys221Phe
ENST00000678920.1:n.895G>T
ENST00000679019.1:n.1507G>T
ENST00000679117.1:c.*552G>T	ENSP00000503240.1:n.*552G>T
ENST00000679339.1:n.1578G>T
ENST00000326739.8:c.737G>T	ENSP00000321584.4:p.Cys246Phe
ENST00000429182.5:c.531G>T
ENST00000442157.1:c.662G>T	ENSP00000403502.1:p.Cys221Phe
ENST00000462980.1:n.639G>T
ENST00000491610.1:n.697G>T
NM_000884.2:c.737G>T	NP_000875.2:p.Cys246Phe
XM_006713128.2:c.947G>T	XP_006713191.1:p.Cys316Phe
XM_006713128.3:c.947G>T	XP_006713191.1:p.Cys316Phe
XM_017006349.1:c.872G>T	XP_016861838.1:p.Cys291Phe
XM_017006350.1:c.872G>T	XP_016861839.1:p.Cys291Phe
NM_000884.3:c.737G>T MANE Select	NP_000875.2:p.Cys246Phe