Canonical Allele Identifier: CA352740208

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064191T>A (hg19) ; chr3:g.49026758T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026758T>A , CM000665.2:g.49026758T>A	GRCh38
NC_000003.11:g.49064191T>A , CM000665.1:g.49064191T>A	GRCh37
NC_000003.10:g.49039195T>A	NCBI36
NG_012091.1:g.7685A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2788A>T	ENSP00000515567.1:p.Ile930Phe
ENST00000703937.1:c.*1849A>T	ENSP00000515568.1:n.*1849A>T
ENST00000326739.9:c.748A>T MANE Select	ENSP00000321584.4:p.Ile250Phe
ENST00000429182.6:c.748A>T	ENSP00000393525.2:p.Ile250Phe
ENST00000442157.2:c.673A>T	ENSP00000403502.2:p.Ile225Phe
ENST00000462980.2:n.1263A>T
ENST00000472328.2:n.814A>T
ENST00000491610.2:n.708A>T
ENST00000676607.1:n.1044A>T
ENST00000676627.1:n.1478A>T
ENST00000676708.1:n.2028A>T
ENST00000676864.1:n.1897A>T
ENST00000677010.1:c.784A>T	ENSP00000503089.1:p.Ile262Phe
ENST00000677108.1:n.2654A>T
ENST00000677168.1:n.1220A>T
ENST00000677185.1:n.1311A>T
ENST00000677205.1:n.1532A>T
ENST00000677344.1:n.2022A>T
ENST00000677480.1:c.*425A>T	ENSP00000504378.1:n.*425A>T
ENST00000677519.1:n.1458A>T
ENST00000677593.1:n.1304A>T
ENST00000677740.1:n.2253A>T
ENST00000677991.1:n.1921A>T
ENST00000678001.1:n.1241A>T
ENST00000678085.1:n.1304A>T
ENST00000678177.1:n.2597A>T
ENST00000678603.1:n.1826A>T
ENST00000678724.1:c.673A>T	ENSP00000503874.1:p.Ile225Phe
ENST00000678920.1:n.906A>T
ENST00000679019.1:n.1518A>T
ENST00000679117.1:c.*563A>T	ENSP00000503240.1:n.*563A>T
ENST00000679339.1:n.1589A>T
ENST00000326739.8:c.748A>T	ENSP00000321584.4:p.Ile250Phe
ENST00000429182.5:c.542A>T
ENST00000442157.1:c.673A>T	ENSP00000403502.1:p.Ile225Phe
ENST00000462980.1:n.650A>T
ENST00000491610.1:n.708A>T
NM_000884.2:c.748A>T	NP_000875.2:p.Ile250Phe
XM_006713128.2:c.958A>T	XP_006713191.1:p.Ile320Phe
XM_006713128.3:c.958A>T	XP_006713191.1:p.Ile320Phe
XM_017006349.1:c.883A>T	XP_016861838.1:p.Ile295Phe
XM_017006350.1:c.883A>T	XP_016861839.1:p.Ile295Phe
NM_000884.3:c.748A>T MANE Select	NP_000875.2:p.Ile250Phe