Canonical Allele Identifier: CA352740023

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064163C>A (hg19) ; chr3:g.49026730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026730C>A , CM000665.2:g.49026730C>A	GRCh38
NC_000003.11:g.49064163C>A , CM000665.1:g.49064163C>A	GRCh37
NC_000003.10:g.49039167C>A	NCBI36
NG_012091.1:g.7713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2816G>T	ENSP00000515567.1:p.Arg939Met
ENST00000703937.1:c.*1877G>T	ENSP00000515568.1:n.*1877G>T
ENST00000326739.9:c.776G>T MANE Select	ENSP00000321584.4:p.Arg259Met
ENST00000429182.6:c.776G>T	ENSP00000393525.2:p.Arg259Met
ENST00000442157.2:c.701G>T	ENSP00000403502.2:p.Arg234Met
ENST00000462980.2:n.1291G>T
ENST00000472328.2:n.842G>T
ENST00000491610.2:n.736G>T
ENST00000676607.1:n.1072G>T
ENST00000676627.1:n.1506G>T
ENST00000676708.1:n.2056G>T
ENST00000676864.1:n.1925G>T
ENST00000677010.1:c.812G>T	ENSP00000503089.1:p.Arg271Met
ENST00000677108.1:n.2682G>T
ENST00000677168.1:n.1248G>T
ENST00000677185.1:n.1339G>T
ENST00000677205.1:n.1560G>T
ENST00000677344.1:n.2050G>T
ENST00000677480.1:c.*453G>T	ENSP00000504378.1:n.*453G>T
ENST00000677519.1:n.1486G>T
ENST00000677593.1:n.1332G>T
ENST00000677740.1:n.2281G>T
ENST00000677991.1:n.1949G>T
ENST00000678001.1:n.1269G>T
ENST00000678085.1:n.1332G>T
ENST00000678177.1:n.2625G>T
ENST00000678603.1:n.1854G>T
ENST00000678724.1:c.701G>T	ENSP00000503874.1:p.Arg234Met
ENST00000678920.1:n.934G>T
ENST00000679019.1:n.1546G>T
ENST00000679117.1:c.*591G>T	ENSP00000503240.1:n.*591G>T
ENST00000679339.1:n.1617G>T
ENST00000326739.8:c.776G>T	ENSP00000321584.4:p.Arg259Met
ENST00000429182.5:c.570G>T
ENST00000442157.1:c.701G>T	ENSP00000403502.1:p.Arg234Met
ENST00000462980.1:n.678G>T
ENST00000491610.1:n.736G>T
NM_000884.2:c.776G>T	NP_000875.2:p.Arg259Met
XM_006713128.2:c.986G>T	XP_006713191.1:p.Arg329Met
XM_006713128.3:c.986G>T	XP_006713191.1:p.Arg329Met
XM_017006349.1:c.911G>T	XP_016861838.1:p.Arg304Met
XM_017006350.1:c.911G>T	XP_016861839.1:p.Arg304Met
NM_000884.3:c.776G>T MANE Select	NP_000875.2:p.Arg259Met