Canonical Allele Identifier: CA352740479

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064226T>A (hg19) ; chr3:g.49026793T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026793T>A , CM000665.2:g.49026793T>A	GRCh38
NC_000003.11:g.49064226T>A , CM000665.1:g.49064226T>A	GRCh37
NC_000003.10:g.49039230T>A	NCBI36
NG_012091.1:g.7650A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2753A>T	ENSP00000515567.1:p.Lys918Ile
ENST00000703937.1:c.*1814A>T	ENSP00000515568.1:n.*1814A>T
ENST00000326739.9:c.713A>T MANE Select	ENSP00000321584.4:p.Lys238Ile
ENST00000429182.6:c.713A>T	ENSP00000393525.2:p.Lys238Ile
ENST00000442157.2:c.638A>T	ENSP00000403502.2:p.Lys213Ile
ENST00000462980.2:n.1228A>T
ENST00000472328.2:n.779A>T
ENST00000491610.2:n.673A>T
ENST00000676607.1:n.1009A>T
ENST00000676627.1:n.1443A>T
ENST00000676708.1:n.1993A>T
ENST00000676864.1:n.1862A>T
ENST00000677010.1:c.749A>T	ENSP00000503089.1:p.Lys250Ile
ENST00000677108.1:n.2619A>T
ENST00000677168.1:n.1185A>T
ENST00000677185.1:n.1276A>T
ENST00000677205.1:n.1497A>T
ENST00000677344.1:n.1987A>T
ENST00000677480.1:c.*390A>T	ENSP00000504378.1:n.*390A>T
ENST00000677519.1:n.1423A>T
ENST00000677593.1:n.1269A>T
ENST00000677740.1:n.2218A>T
ENST00000677991.1:n.1886A>T
ENST00000678001.1:n.1206A>T
ENST00000678085.1:n.1269A>T
ENST00000678177.1:n.2562A>T
ENST00000678603.1:n.1791A>T
ENST00000678724.1:c.638A>T	ENSP00000503874.1:p.Lys213Ile
ENST00000678920.1:n.871A>T
ENST00000679019.1:n.1483A>T
ENST00000679117.1:c.*528A>T	ENSP00000503240.1:n.*528A>T
ENST00000679339.1:n.1554A>T
ENST00000326739.8:c.713A>T	ENSP00000321584.4:p.Lys238Ile
ENST00000429182.5:c.507A>T
ENST00000442157.1:c.638A>T	ENSP00000403502.1:p.Lys213Ile
ENST00000462980.1:n.615A>T
ENST00000491610.1:n.673A>T
NM_000884.2:c.713A>T	NP_000875.2:p.Lys238Ile
XM_006713128.2:c.923A>T	XP_006713191.1:p.Lys308Ile
XM_006713128.3:c.923A>T	XP_006713191.1:p.Lys308Ile
XM_017006349.1:c.848A>T	XP_016861838.1:p.Lys283Ile
XM_017006350.1:c.848A>T	XP_016861839.1:p.Lys283Ile
NM_000884.3:c.713A>T MANE Select	NP_000875.2:p.Lys238Ile