Canonical Allele Identifier: CA352740503

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064229G>A (hg19) ; chr3:g.49026796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026796G>A , CM000665.2:g.49026796G>A	GRCh38
NC_000003.11:g.49064229G>A , CM000665.1:g.49064229G>A	GRCh37
NC_000003.10:g.49039233G>A	NCBI36
NG_012091.1:g.7647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2750C>T	ENSP00000515567.1:p.Ser917Phe
ENST00000703937.1:c.*1811C>T	ENSP00000515568.1:n.*1811C>T
ENST00000326739.9:c.710C>T MANE Select	ENSP00000321584.4:p.Ser237Phe
ENST00000429182.6:c.710C>T	ENSP00000393525.2:p.Ser237Phe
ENST00000442157.2:c.635C>T	ENSP00000403502.2:p.Ser212Phe
ENST00000462980.2:n.1225C>T
ENST00000472328.2:n.776C>T
ENST00000491610.2:n.670C>T
ENST00000676607.1:n.1006C>T
ENST00000676627.1:n.1440C>T
ENST00000676708.1:n.1990C>T
ENST00000676864.1:n.1859C>T
ENST00000677010.1:c.746C>T	ENSP00000503089.1:p.Ser249Phe
ENST00000677108.1:n.2616C>T
ENST00000677168.1:n.1182C>T
ENST00000677185.1:n.1273C>T
ENST00000677205.1:n.1494C>T
ENST00000677344.1:n.1984C>T
ENST00000677480.1:c.*387C>T	ENSP00000504378.1:n.*387C>T
ENST00000677519.1:n.1420C>T
ENST00000677593.1:n.1266C>T
ENST00000677740.1:n.2215C>T
ENST00000677991.1:n.1883C>T
ENST00000678001.1:n.1203C>T
ENST00000678085.1:n.1266C>T
ENST00000678177.1:n.2559C>T
ENST00000678603.1:n.1788C>T
ENST00000678724.1:c.635C>T	ENSP00000503874.1:p.Ser212Phe
ENST00000678920.1:n.868C>T
ENST00000679019.1:n.1480C>T
ENST00000679117.1:c.*525C>T	ENSP00000503240.1:n.*525C>T
ENST00000679339.1:n.1551C>T
ENST00000326739.8:c.710C>T	ENSP00000321584.4:p.Ser237Phe
ENST00000429182.5:c.504C>T
ENST00000442157.1:c.635C>T	ENSP00000403502.1:p.Ser212Phe
ENST00000462980.1:n.612C>T
ENST00000491610.1:n.670C>T
NM_000884.2:c.710C>T	NP_000875.2:p.Ser237Phe
XM_006713128.2:c.920C>T	XP_006713191.1:p.Ser307Phe
XM_006713128.3:c.920C>T	XP_006713191.1:p.Ser307Phe
XM_017006349.1:c.845C>T	XP_016861838.1:p.Ser282Phe
XM_017006350.1:c.845C>T	XP_016861839.1:p.Ser282Phe
NM_000884.3:c.710C>T MANE Select	NP_000875.2:p.Ser237Phe