Canonical Allele Identifier: CA352740169

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064187C>A (hg19) ; chr3:g.49026754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026754C>A , CM000665.2:g.49026754C>A	GRCh38
NC_000003.11:g.49064187C>A , CM000665.1:g.49064187C>A	GRCh37
NC_000003.10:g.49039191C>A	NCBI36
NG_012091.1:g.7689G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2792G>T	ENSP00000515567.1:p.Gly931Val
ENST00000703937.1:c.*1853G>T	ENSP00000515568.1:n.*1853G>T
ENST00000326739.9:c.752G>T MANE Select	ENSP00000321584.4:p.Gly251Val
ENST00000429182.6:c.752G>T	ENSP00000393525.2:p.Gly251Val
ENST00000442157.2:c.677G>T	ENSP00000403502.2:p.Gly226Val
ENST00000462980.2:n.1267G>T
ENST00000472328.2:n.818G>T
ENST00000491610.2:n.712G>T
ENST00000676607.1:n.1048G>T
ENST00000676627.1:n.1482G>T
ENST00000676708.1:n.2032G>T
ENST00000676864.1:n.1901G>T
ENST00000677010.1:c.788G>T	ENSP00000503089.1:p.Gly263Val
ENST00000677108.1:n.2658G>T
ENST00000677168.1:n.1224G>T
ENST00000677185.1:n.1315G>T
ENST00000677205.1:n.1536G>T
ENST00000677344.1:n.2026G>T
ENST00000677480.1:c.*429G>T	ENSP00000504378.1:n.*429G>T
ENST00000677519.1:n.1462G>T
ENST00000677593.1:n.1308G>T
ENST00000677740.1:n.2257G>T
ENST00000677991.1:n.1925G>T
ENST00000678001.1:n.1245G>T
ENST00000678085.1:n.1308G>T
ENST00000678177.1:n.2601G>T
ENST00000678603.1:n.1830G>T
ENST00000678724.1:c.677G>T	ENSP00000503874.1:p.Gly226Val
ENST00000678920.1:n.910G>T
ENST00000679019.1:n.1522G>T
ENST00000679117.1:c.*567G>T	ENSP00000503240.1:n.*567G>T
ENST00000679339.1:n.1593G>T
ENST00000326739.8:c.752G>T	ENSP00000321584.4:p.Gly251Val
ENST00000429182.5:c.546G>T
ENST00000442157.1:c.677G>T	ENSP00000403502.1:p.Gly226Val
ENST00000462980.1:n.654G>T
ENST00000491610.1:n.712G>T
NM_000884.2:c.752G>T	NP_000875.2:p.Gly251Val
XM_006713128.2:c.962G>T	XP_006713191.1:p.Gly321Val
XM_006713128.3:c.962G>T	XP_006713191.1:p.Gly321Val
XM_017006349.1:c.887G>T	XP_016861838.1:p.Gly296Val
XM_017006350.1:c.887G>T	XP_016861839.1:p.Gly296Val
NM_000884.3:c.752G>T MANE Select	NP_000875.2:p.Gly251Val