Canonical Allele Identifier: CA352741304

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064317T>C (hg19) ; chr3:g.49026884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026884T>C , CM000665.2:g.49026884T>C	GRCh38
NC_000003.11:g.49064317T>C , CM000665.1:g.49064317T>C	GRCh37
NC_000003.10:g.49039321T>C	NCBI36
NG_012091.1:g.7559A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2662A>G	ENSP00000515567.1:p.Lys888Glu
ENST00000703937.1:c.*1723A>G	ENSP00000515568.1:n.*1723A>G
ENST00000326739.9:c.622A>G MANE Select	ENSP00000321584.4:p.Lys208Glu
ENST00000429182.6:c.622A>G	ENSP00000393525.2:p.Lys208Glu
ENST00000442157.2:c.547A>G	ENSP00000403502.2:p.Lys183Glu
ENST00000462980.2:n.1137A>G
ENST00000472328.2:n.688A>G
ENST00000491610.2:n.582A>G
ENST00000676607.1:n.918A>G
ENST00000676627.1:n.1352A>G
ENST00000676708.1:n.1902A>G
ENST00000676864.1:n.1771A>G
ENST00000677010.1:c.658A>G	ENSP00000503089.1:p.Lys220Glu
ENST00000677108.1:n.2528A>G
ENST00000677168.1:n.1094A>G
ENST00000677185.1:n.1185A>G
ENST00000677205.1:n.1406A>G
ENST00000677344.1:n.1896A>G
ENST00000677480.1:c.*299A>G	ENSP00000504378.1:n.*299A>G
ENST00000677519.1:n.1332A>G
ENST00000677593.1:n.1178A>G
ENST00000677740.1:n.2127A>G
ENST00000677991.1:n.1795A>G
ENST00000678001.1:n.1115A>G
ENST00000678085.1:n.1178A>G
ENST00000678177.1:n.2471A>G
ENST00000678603.1:n.1700A>G
ENST00000678724.1:c.547A>G	ENSP00000503874.1:p.Lys183Glu
ENST00000678920.1:n.780A>G
ENST00000679019.1:n.1392A>G
ENST00000679117.1:c.*437A>G	ENSP00000503240.1:n.*437A>G
ENST00000679339.1:n.1463A>G
ENST00000326739.8:c.622A>G	ENSP00000321584.4:p.Lys208Glu
ENST00000429182.5:c.416A>G
ENST00000442157.1:c.547A>G	ENSP00000403502.1:p.Lys183Glu
ENST00000462980.1:n.524A>G
ENST00000491610.1:n.582A>G
NM_000884.2:c.622A>G	NP_000875.2:p.Lys208Glu
XM_006713128.2:c.832A>G	XP_006713191.1:p.Lys278Glu
XM_006713128.3:c.832A>G	XP_006713191.1:p.Lys278Glu
XM_017006349.1:c.757A>G	XP_016861838.1:p.Lys253Glu
XM_017006350.1:c.757A>G	XP_016861839.1:p.Lys253Glu
NM_000884.3:c.622A>G MANE Select	NP_000875.2:p.Lys208Glu