Canonical Allele Identifier: CA352739722

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064042C>A (hg19) ; chr3:g.49026609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026609C>A , CM000665.2:g.49026609C>A	GRCh38
NC_000003.11:g.49064042C>A , CM000665.1:g.49064042C>A	GRCh37
NC_000003.10:g.49039046C>A	NCBI36
NG_012091.1:g.7834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2860G>T	ENSP00000515567.1:p.Asp954Tyr
ENST00000703937.1:c.*1921G>T	ENSP00000515568.1:n.*1921G>T
ENST00000326739.9:c.820G>T MANE Select	ENSP00000321584.4:p.Asp274Tyr
ENST00000429182.6:c.820G>T	ENSP00000393525.2:p.Asp274Tyr
ENST00000442157.2:c.745G>T	ENSP00000403502.2:p.Asp249Tyr
ENST00000462980.2:n.1335G>T
ENST00000472328.2:n.886G>T
ENST00000491610.2:n.780G>T
ENST00000676607.1:n.1116G>T
ENST00000676627.1:n.1550G>T
ENST00000676708.1:n.2100G>T
ENST00000676864.1:n.1969G>T
ENST00000677010.1:c.856-12G>T	ENSP00000503089.1:n.856-12G>T
ENST00000677108.1:n.2803G>T
ENST00000677168.1:n.1292G>T
ENST00000677185.1:n.1383G>T
ENST00000677205.1:n.1604G>T
ENST00000677344.1:n.2094G>T
ENST00000677480.1:c.*497G>T	ENSP00000504378.1:n.*497G>T
ENST00000677519.1:n.1530G>T
ENST00000677593.1:n.1376G>T
ENST00000677740.1:n.2325G>T
ENST00000677991.1:n.1993G>T
ENST00000678001.1:n.1313G>T
ENST00000678085.1:n.1453G>T
ENST00000678177.1:n.2746G>T
ENST00000678603.1:n.1898G>T
ENST00000678724.1:c.745G>T	ENSP00000503874.1:p.Asp249Tyr
ENST00000678920.1:n.978G>T
ENST00000679019.1:n.1667G>T
ENST00000679117.1:c.*635G>T	ENSP00000503240.1:n.*635G>T
ENST00000679339.1:n.1661G>T
ENST00000326739.8:c.820G>T	ENSP00000321584.4:p.Asp274Tyr
ENST00000429182.5:c.614G>T
ENST00000442157.1:c.745G>T	ENSP00000403502.1:p.Asp249Tyr
ENST00000462980.1:n.722G>T
ENST00000491610.1:n.780G>T
NM_000884.2:c.820G>T	NP_000875.2:p.Asp274Tyr
XM_006713128.2:c.1030G>T	XP_006713191.1:p.Asp344Tyr
XM_006713128.3:c.1030G>T	XP_006713191.1:p.Asp344Tyr
XM_017006349.1:c.955G>T	XP_016861838.1:p.Asp319Tyr
XM_017006350.1:c.955G>T	XP_016861839.1:p.Asp319Tyr
NM_000884.3:c.820G>T MANE Select	NP_000875.2:p.Asp274Tyr