Canonical Allele Identifier: CA352741025

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064296C>G (hg19) ; chr3:g.49026863C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026863C>G , CM000665.2:g.49026863C>G	GRCh38
NC_000003.11:g.49064296C>G , CM000665.1:g.49064296C>G	GRCh37
NC_000003.10:g.49039300C>G	NCBI36
NG_012091.1:g.7580G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2683G>C	ENSP00000515567.1:p.Asp895His
ENST00000703937.1:c.*1744G>C	ENSP00000515568.1:n.*1744G>C
ENST00000326739.9:c.643G>C MANE Select	ENSP00000321584.4:p.Asp215His
ENST00000429182.6:c.643G>C	ENSP00000393525.2:p.Asp215His
ENST00000442157.2:c.568G>C	ENSP00000403502.2:p.Asp190His
ENST00000462980.2:n.1158G>C
ENST00000472328.2:n.709G>C
ENST00000491610.2:n.603G>C
ENST00000676607.1:n.939G>C
ENST00000676627.1:n.1373G>C
ENST00000676708.1:n.1923G>C
ENST00000676864.1:n.1792G>C
ENST00000677010.1:c.679G>C	ENSP00000503089.1:p.Asp227His
ENST00000677108.1:n.2549G>C
ENST00000677168.1:n.1115G>C
ENST00000677185.1:n.1206G>C
ENST00000677205.1:n.1427G>C
ENST00000677344.1:n.1917G>C
ENST00000677480.1:c.*320G>C	ENSP00000504378.1:n.*320G>C
ENST00000677519.1:n.1353G>C
ENST00000677593.1:n.1199G>C
ENST00000677740.1:n.2148G>C
ENST00000677991.1:n.1816G>C
ENST00000678001.1:n.1136G>C
ENST00000678085.1:n.1199G>C
ENST00000678177.1:n.2492G>C
ENST00000678603.1:n.1721G>C
ENST00000678724.1:c.568G>C	ENSP00000503874.1:p.Asp190His
ENST00000678920.1:n.801G>C
ENST00000679019.1:n.1413G>C
ENST00000679117.1:c.*458G>C	ENSP00000503240.1:n.*458G>C
ENST00000679339.1:n.1484G>C
ENST00000326739.8:c.643G>C	ENSP00000321584.4:p.Asp215His
ENST00000429182.5:c.437G>C
ENST00000442157.1:c.568G>C	ENSP00000403502.1:p.Asp190His
ENST00000462980.1:n.545G>C
ENST00000491610.1:n.603G>C
NM_000884.2:c.643G>C	NP_000875.2:p.Asp215His
XM_006713128.2:c.853G>C	XP_006713191.1:p.Asp285His
XM_006713128.3:c.853G>C	XP_006713191.1:p.Asp285His
XM_017006349.1:c.778G>C	XP_016861838.1:p.Asp260His
XM_017006350.1:c.778G>C	XP_016861839.1:p.Asp260His
NM_000884.3:c.643G>C MANE Select	NP_000875.2:p.Asp215His