Canonical Allele Identifier: CA543047618

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1241967939
• gnomAD v2: 3-49064254-T-TC
• gnomAD v4: 3-49026821-T-TC
• MyVariant Identifiers: chr3:g.49064254_49064255insC (hg19) ; chr3:g.49026821_49026822insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026822dup , CM000665.2:g.49026822dup	GRCh38
NC_000003.11:g.49064255dup , CM000665.1:g.49064255dup	GRCh37
NC_000003.10:g.49039259dup	NCBI36
NG_012091.1:g.7621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2724dup	ENSP00000515567.1:p.Lys909GlufsTer26
ENST00000703937.1:c.*1785dup	ENSP00000515568.1:n.*1785dup
ENST00000326739.9:c.684dup MANE Select	ENSP00000321584.4:p.Lys229GlufsTer26
ENST00000429182.6:c.684dup	ENSP00000393525.2:p.Lys229GlufsTer26
ENST00000442157.2:c.609dup	ENSP00000403502.2:p.Lys204GlufsTer26
ENST00000462980.2:n.1199dup
ENST00000472328.2:n.750dup
ENST00000491610.2:n.644dup
ENST00000676607.1:n.980dup
ENST00000676627.1:n.1414dup
ENST00000676708.1:n.1964dup
ENST00000676864.1:n.1833dup
ENST00000677010.1:c.720dup	ENSP00000503089.1:p.Lys241GlufsTer26
ENST00000677108.1:n.2590dup
ENST00000677168.1:n.1156dup
ENST00000677185.1:n.1247dup
ENST00000677205.1:n.1468dup
ENST00000677344.1:n.1958dup
ENST00000677480.1:c.*361dup	ENSP00000504378.1:n.*361dup
ENST00000677519.1:n.1394dup
ENST00000677593.1:n.1240dup
ENST00000677740.1:n.2189dup
ENST00000677991.1:n.1857dup
ENST00000678001.1:n.1177dup
ENST00000678085.1:n.1240dup
ENST00000678177.1:n.2533dup
ENST00000678603.1:n.1762dup
ENST00000678724.1:c.609dup	ENSP00000503874.1:p.Lys204GlufsTer26
ENST00000678920.1:n.842dup
ENST00000679019.1:n.1454dup
ENST00000679117.1:c.*499dup	ENSP00000503240.1:n.*499dup
ENST00000679339.1:n.1525dup
ENST00000326739.8:c.684dup	ENSP00000321584.4:p.Lys229GlufsTer26
ENST00000429182.5:c.478dup
ENST00000442157.1:c.609dup	ENSP00000403502.1:p.Lys204GlufsTer26
ENST00000462980.1:n.586dup
ENST00000491610.1:n.644dup
NM_000884.2:c.684dup	NP_000875.2:p.Lys229GlufsTer26
XM_006713128.2:c.894dup	XP_006713191.1:p.Lys299GlufsTer26
XM_006713128.3:c.894dup	XP_006713191.1:p.Lys299GlufsTer26
XM_017006349.1:c.819dup	XP_016861838.1:p.Lys274GlufsTer26
XM_017006350.1:c.819dup	XP_016861839.1:p.Lys274GlufsTer26
NM_000884.3:c.684dup MANE Select	NP_000875.2:p.Lys229GlufsTer26