Canonical Allele Identifier: CA352740000

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064158C>A (hg19) ; chr3:g.49026725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026725C>A , CM000665.2:g.49026725C>A	GRCh38
NC_000003.11:g.49064158C>A , CM000665.1:g.49064158C>A	GRCh37
NC_000003.10:g.49039162C>A	NCBI36
NG_012091.1:g.7718G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2821G>T	ENSP00000515567.1:p.Asp941Tyr
ENST00000703937.1:c.*1882G>T	ENSP00000515568.1:n.*1882G>T
ENST00000326739.9:c.781G>T MANE Select	ENSP00000321584.4:p.Asp261Tyr
ENST00000429182.6:c.781G>T	ENSP00000393525.2:p.Asp261Tyr
ENST00000442157.2:c.706G>T	ENSP00000403502.2:p.Asp236Tyr
ENST00000462980.2:n.1296G>T
ENST00000472328.2:n.847G>T
ENST00000491610.2:n.741G>T
ENST00000676607.1:n.1077G>T
ENST00000676627.1:n.1511G>T
ENST00000676708.1:n.2061G>T
ENST00000676864.1:n.1930G>T
ENST00000677010.1:c.817G>T	ENSP00000503089.1:p.Asp273Tyr
ENST00000677108.1:n.2687G>T
ENST00000677168.1:n.1253G>T
ENST00000677185.1:n.1344G>T
ENST00000677205.1:n.1565G>T
ENST00000677344.1:n.2055G>T
ENST00000677480.1:c.*458G>T	ENSP00000504378.1:n.*458G>T
ENST00000677519.1:n.1491G>T
ENST00000677593.1:n.1337G>T
ENST00000677740.1:n.2286G>T
ENST00000677991.1:n.1954G>T
ENST00000678001.1:n.1274G>T
ENST00000678085.1:n.1337G>T
ENST00000678177.1:n.2630G>T
ENST00000678603.1:n.1859G>T
ENST00000678724.1:c.706G>T	ENSP00000503874.1:p.Asp236Tyr
ENST00000678920.1:n.939G>T
ENST00000679019.1:n.1551G>T
ENST00000679117.1:c.*596G>T	ENSP00000503240.1:n.*596G>T
ENST00000679339.1:n.1622G>T
ENST00000326739.8:c.781G>T	ENSP00000321584.4:p.Asp261Tyr
ENST00000429182.5:c.575G>T
ENST00000442157.1:c.706G>T	ENSP00000403502.1:p.Asp236Tyr
ENST00000462980.1:n.683G>T
ENST00000491610.1:n.741G>T
NM_000884.2:c.781G>T	NP_000875.2:p.Asp261Tyr
XM_006713128.2:c.991G>T	XP_006713191.1:p.Asp331Tyr
XM_006713128.3:c.991G>T	XP_006713191.1:p.Asp331Tyr
XM_017006349.1:c.916G>T	XP_016861838.1:p.Asp306Tyr
XM_017006350.1:c.916G>T	XP_016861839.1:p.Asp306Tyr
NM_000884.3:c.781G>T MANE Select	NP_000875.2:p.Asp261Tyr