Canonical Allele Identifier: CA352740578

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064241T>A (hg19) ; chr3:g.49026808T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026808T>A , CM000665.2:g.49026808T>A	GRCh38
NC_000003.11:g.49064241T>A , CM000665.1:g.49064241T>A	GRCh37
NC_000003.10:g.49039245T>A	NCBI36
NG_012091.1:g.7635A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2738A>T	ENSP00000515567.1:p.Tyr913Phe
ENST00000703937.1:c.*1799A>T	ENSP00000515568.1:n.*1799A>T
ENST00000326739.9:c.698A>T MANE Select	ENSP00000321584.4:p.Tyr233Phe
ENST00000429182.6:c.698A>T	ENSP00000393525.2:p.Tyr233Phe
ENST00000442157.2:c.623A>T	ENSP00000403502.2:p.Tyr208Phe
ENST00000462980.2:n.1213A>T
ENST00000472328.2:n.764A>T
ENST00000491610.2:n.658A>T
ENST00000676607.1:n.994A>T
ENST00000676627.1:n.1428A>T
ENST00000676708.1:n.1978A>T
ENST00000676864.1:n.1847A>T
ENST00000677010.1:c.734A>T	ENSP00000503089.1:p.Tyr245Phe
ENST00000677108.1:n.2604A>T
ENST00000677168.1:n.1170A>T
ENST00000677185.1:n.1261A>T
ENST00000677205.1:n.1482A>T
ENST00000677344.1:n.1972A>T
ENST00000677480.1:c.*375A>T	ENSP00000504378.1:n.*375A>T
ENST00000677519.1:n.1408A>T
ENST00000677593.1:n.1254A>T
ENST00000677740.1:n.2203A>T
ENST00000677991.1:n.1871A>T
ENST00000678001.1:n.1191A>T
ENST00000678085.1:n.1254A>T
ENST00000678177.1:n.2547A>T
ENST00000678603.1:n.1776A>T
ENST00000678724.1:c.623A>T	ENSP00000503874.1:p.Tyr208Phe
ENST00000678920.1:n.856A>T
ENST00000679019.1:n.1468A>T
ENST00000679117.1:c.*513A>T	ENSP00000503240.1:n.*513A>T
ENST00000679339.1:n.1539A>T
ENST00000326739.8:c.698A>T	ENSP00000321584.4:p.Tyr233Phe
ENST00000429182.5:c.492A>T
ENST00000442157.1:c.623A>T	ENSP00000403502.1:p.Tyr208Phe
ENST00000462980.1:n.600A>T
ENST00000491610.1:n.658A>T
NM_000884.2:c.698A>T	NP_000875.2:p.Tyr233Phe
XM_006713128.2:c.908A>T	XP_006713191.1:p.Tyr303Phe
XM_006713128.3:c.908A>T	XP_006713191.1:p.Tyr303Phe
XM_017006349.1:c.833A>T	XP_016861838.1:p.Tyr278Phe
XM_017006350.1:c.833A>T	XP_016861839.1:p.Tyr278Phe
NM_000884.3:c.698A>T MANE Select	NP_000875.2:p.Tyr233Phe