Canonical Allele Identifier: CA352741300

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2662A>T	ENSP00000515567.1:p.Lys888Ter
ENST00000703937.1:c.*1723A>T	ENSP00000515568.1:n.*1723A>T
ENST00000326739.9:c.622A>T MANE Select	ENSP00000321584.4:p.Lys208Ter
ENST00000429182.6:c.622A>T	ENSP00000393525.2:p.Lys208Ter
ENST00000442157.2:c.547A>T	ENSP00000403502.2:p.Lys183Ter
ENST00000462980.2:n.1137A>T
ENST00000472328.2:n.688A>T
ENST00000491610.2:n.582A>T
ENST00000676607.1:n.918A>T
ENST00000676627.1:n.1352A>T
ENST00000676708.1:n.1902A>T
ENST00000676864.1:n.1771A>T
ENST00000677010.1:c.658A>T	ENSP00000503089.1:p.Lys220Ter
ENST00000677108.1:n.2528A>T
ENST00000677168.1:n.1094A>T
ENST00000677185.1:n.1185A>T
ENST00000677205.1:n.1406A>T
ENST00000677344.1:n.1896A>T
ENST00000677480.1:c.*299A>T	ENSP00000504378.1:n.*299A>T
ENST00000677519.1:n.1332A>T
ENST00000677593.1:n.1178A>T
ENST00000677740.1:n.2127A>T
ENST00000677991.1:n.1795A>T
ENST00000678001.1:n.1115A>T
ENST00000678085.1:n.1178A>T
ENST00000678177.1:n.2471A>T
ENST00000678603.1:n.1700A>T
ENST00000678724.1:c.547A>T	ENSP00000503874.1:p.Lys183Ter
ENST00000678920.1:n.780A>T
ENST00000679019.1:n.1392A>T
ENST00000679117.1:c.*437A>T	ENSP00000503240.1:n.*437A>T
ENST00000679339.1:n.1463A>T
ENST00000326739.8:c.622A>T	ENSP00000321584.4:p.Lys208Ter
ENST00000429182.5:c.416A>T
ENST00000442157.1:c.547A>T	ENSP00000403502.1:p.Lys183Ter
ENST00000462980.1:n.524A>T
ENST00000491610.1:n.582A>T
NM_000884.2:c.622A>T	NP_000875.2:p.Lys208Ter
XM_006713128.2:c.832A>T	XP_006713191.1:p.Lys278Ter
XM_006713128.3:c.832A>T	XP_006713191.1:p.Lys278Ter
XM_017006349.1:c.757A>T	XP_016861838.1:p.Lys253Ter
XM_017006350.1:c.757A>T	XP_016861839.1:p.Lys253Ter
NM_000884.3:c.622A>T MANE Select	NP_000875.2:p.Lys208Ter