Canonical Allele Identifier: CA352741215

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026878-G-C
• MyVariant Identifiers: chr3:g.49064311G>C (hg19) ; chr3:g.49026878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026878G>C , CM000665.2:g.49026878G>C	GRCh38
NC_000003.11:g.49064311G>C , CM000665.1:g.49064311G>C	GRCh37
NC_000003.10:g.49039315G>C	NCBI36
NG_012091.1:g.7565C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2668C>G	ENSP00000515567.1:p.Pro890Ala
ENST00000703937.1:c.*1729C>G	ENSP00000515568.1:n.*1729C>G
ENST00000326739.9:c.628C>G MANE Select	ENSP00000321584.4:p.Pro210Ala
ENST00000429182.6:c.628C>G	ENSP00000393525.2:p.Pro210Ala
ENST00000442157.2:c.553C>G	ENSP00000403502.2:p.Pro185Ala
ENST00000462980.2:n.1143C>G
ENST00000472328.2:n.694C>G
ENST00000491610.2:n.588C>G
ENST00000676607.1:n.924C>G
ENST00000676627.1:n.1358C>G
ENST00000676708.1:n.1908C>G
ENST00000676864.1:n.1777C>G
ENST00000677010.1:c.664C>G	ENSP00000503089.1:p.Pro222Ala
ENST00000677108.1:n.2534C>G
ENST00000677168.1:n.1100C>G
ENST00000677185.1:n.1191C>G
ENST00000677205.1:n.1412C>G
ENST00000677344.1:n.1902C>G
ENST00000677480.1:c.*305C>G	ENSP00000504378.1:n.*305C>G
ENST00000677519.1:n.1338C>G
ENST00000677593.1:n.1184C>G
ENST00000677740.1:n.2133C>G
ENST00000677991.1:n.1801C>G
ENST00000678001.1:n.1121C>G
ENST00000678085.1:n.1184C>G
ENST00000678177.1:n.2477C>G
ENST00000678603.1:n.1706C>G
ENST00000678724.1:c.553C>G	ENSP00000503874.1:p.Pro185Ala
ENST00000678920.1:n.786C>G
ENST00000679019.1:n.1398C>G
ENST00000679117.1:c.*443C>G	ENSP00000503240.1:n.*443C>G
ENST00000679339.1:n.1469C>G
ENST00000326739.8:c.628C>G	ENSP00000321584.4:p.Pro210Ala
ENST00000429182.5:c.422C>G
ENST00000442157.1:c.553C>G	ENSP00000403502.1:p.Pro185Ala
ENST00000462980.1:n.530C>G
ENST00000491610.1:n.588C>G
NM_000884.2:c.628C>G	NP_000875.2:p.Pro210Ala
XM_006713128.2:c.838C>G	XP_006713191.1:p.Pro280Ala
XM_006713128.3:c.838C>G	XP_006713191.1:p.Pro280Ala
XM_017006349.1:c.763C>G	XP_016861838.1:p.Pro255Ala
XM_017006350.1:c.763C>G	XP_016861839.1:p.Pro255Ala
NM_000884.3:c.628C>G MANE Select	NP_000875.2:p.Pro210Ala