Canonical Allele Identifier: CA2390653

Gene: IMPDH2

Linked Data

• dbSNP Id: rs748999653
• ExAC: 3:49064394 C / T
• gnomAD v2: 3-49064394-C-T
• gnomAD v4: 3-49026961-C-T
• MyVariant Identifiers: chr3:g.49064394C>T (hg19) ; chr3:g.49026961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026961C>T , CM000665.2:g.49026961C>T	GRCh38
NC_000003.11:g.49064394C>T , CM000665.1:g.49064394C>T	GRCh37
NC_000003.10:g.49039398C>T	NCBI36
NG_012091.1:g.7482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2658G>A	ENSP00000515567.1:p.Lys886=
ENST00000703937.1:c.*1719G>A	ENSP00000515568.1:n.*1719G>A
ENST00000326739.9:c.618G>A MANE Select	ENSP00000321584.4:p.Lys206=
ENST00000429182.6:c.618G>A	ENSP00000393525.2:p.Lys206=
ENST00000442157.2:c.543G>A	ENSP00000403502.2:p.Lys181=
ENST00000462980.2:n.1133G>A
ENST00000472328.2:n.684G>A
ENST00000491610.2:n.505G>A
ENST00000676607.1:n.914G>A
ENST00000676627.1:n.1348G>A
ENST00000676708.1:n.1825G>A
ENST00000676864.1:n.1694G>A
ENST00000677010.1:c.654G>A	ENSP00000503089.1:p.Lys218=
ENST00000677108.1:n.2451G>A
ENST00000677168.1:n.1090G>A
ENST00000677185.1:n.1108G>A
ENST00000677205.1:n.1329G>A
ENST00000677344.1:n.1819G>A
ENST00000677480.1:c.*295G>A	ENSP00000504378.1:n.*295G>A
ENST00000677519.1:n.1328G>A
ENST00000677593.1:n.1101G>A
ENST00000677740.1:n.2050G>A
ENST00000677991.1:n.1791G>A
ENST00000678001.1:n.1111G>A
ENST00000678085.1:n.1101G>A
ENST00000678177.1:n.2394G>A
ENST00000678603.1:n.1696G>A
ENST00000678724.1:c.543G>A	ENSP00000503874.1:p.Lys181=
ENST00000678920.1:n.776G>A
ENST00000679019.1:n.1315G>A
ENST00000679117.1:c.*433G>A	ENSP00000503240.1:n.*433G>A
ENST00000679339.1:n.1386G>A
ENST00000326739.8:c.618G>A	ENSP00000321584.4:p.Lys206=
ENST00000429182.5:c.412G>A
ENST00000442157.1:c.543G>A	ENSP00000403502.1:p.Lys181=
ENST00000462980.1:n.520G>A
ENST00000491610.1:n.505G>A
NM_000884.2:c.618G>A	NP_000875.2:p.Lys206=
XM_006713128.2:c.828G>A	XP_006713191.1:p.Lys276=
XM_006713128.3:c.828G>A	XP_006713191.1:p.Lys276=
XM_017006349.1:c.753G>A	XP_016861838.1:p.Lys251=
XM_017006350.1:c.753G>A	XP_016861839.1:p.Lys251=
NM_000884.3:c.618G>A MANE Select	NP_000875.2:p.Lys206=