Canonical Allele Identifier: CA2390624

Gene: IMPDH2

Linked Data

• dbSNP Id: rs758219088
• ExAC: 3:49064213 T / C
• gnomAD v2: 3-49064213-T-C
• gnomAD v3: 3-49026780-T-C
• gnomAD v4: 3-49026780-T-C
• MyVariant Identifiers: chr3:g.49064213T>C (hg19) ; chr3:g.49026780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026780T>C , CM000665.2:g.49026780T>C	GRCh38
NC_000003.11:g.49064213T>C , CM000665.1:g.49064213T>C	GRCh37
NC_000003.10:g.49039217T>C	NCBI36
NG_012091.1:g.7663A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2766A>G	ENSP00000515567.1:p.Lys922=
ENST00000703937.1:c.*1827A>G	ENSP00000515568.1:n.*1827A>G
ENST00000326739.9:c.726A>G MANE Select	ENSP00000321584.4:p.Lys242=
ENST00000429182.6:c.726A>G	ENSP00000393525.2:p.Lys242=
ENST00000442157.2:c.651A>G	ENSP00000403502.2:p.Lys217=
ENST00000462980.2:n.1241A>G
ENST00000472328.2:n.792A>G
ENST00000491610.2:n.686A>G
ENST00000676607.1:n.1022A>G
ENST00000676627.1:n.1456A>G
ENST00000676708.1:n.2006A>G
ENST00000676864.1:n.1875A>G
ENST00000677010.1:c.762A>G	ENSP00000503089.1:p.Lys254=
ENST00000677108.1:n.2632A>G
ENST00000677168.1:n.1198A>G
ENST00000677185.1:n.1289A>G
ENST00000677205.1:n.1510A>G
ENST00000677344.1:n.2000A>G
ENST00000677480.1:c.*403A>G	ENSP00000504378.1:n.*403A>G
ENST00000677519.1:n.1436A>G
ENST00000677593.1:n.1282A>G
ENST00000677740.1:n.2231A>G
ENST00000677991.1:n.1899A>G
ENST00000678001.1:n.1219A>G
ENST00000678085.1:n.1282A>G
ENST00000678177.1:n.2575A>G
ENST00000678603.1:n.1804A>G
ENST00000678724.1:c.651A>G	ENSP00000503874.1:p.Lys217=
ENST00000678920.1:n.884A>G
ENST00000679019.1:n.1496A>G
ENST00000679117.1:c.*541A>G	ENSP00000503240.1:n.*541A>G
ENST00000679339.1:n.1567A>G
ENST00000326739.8:c.726A>G	ENSP00000321584.4:p.Lys242=
ENST00000429182.5:c.520A>G
ENST00000442157.1:c.651A>G	ENSP00000403502.1:p.Lys217=
ENST00000462980.1:n.628A>G
ENST00000491610.1:n.686A>G
NM_000884.2:c.726A>G	NP_000875.2:p.Lys242=
XM_006713128.2:c.936A>G	XP_006713191.1:p.Lys312=
XM_006713128.3:c.936A>G	XP_006713191.1:p.Lys312=
XM_017006349.1:c.861A>G	XP_016861838.1:p.Lys287=
XM_017006350.1:c.861A>G	XP_016861839.1:p.Lys287=
NM_000884.3:c.726A>G MANE Select	NP_000875.2:p.Lys242=