Canonical Allele Identifier: CA352739966

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064153C>A (hg19) ; chr3:g.49026720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026720C>A , CM000665.2:g.49026720C>A	GRCh38
NC_000003.11:g.49064153C>A , CM000665.1:g.49064153C>A	GRCh37
NC_000003.10:g.49039157C>A	NCBI36
NG_012091.1:g.7723G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2826G>T	ENSP00000515567.1:p.Leu942Phe
ENST00000703937.1:c.*1887G>T	ENSP00000515568.1:n.*1887G>T
ENST00000326739.9:c.786G>T MANE Select	ENSP00000321584.4:p.Leu262Phe
ENST00000429182.6:c.786G>T	ENSP00000393525.2:p.Leu262Phe
ENST00000442157.2:c.711G>T	ENSP00000403502.2:p.Leu237Phe
ENST00000462980.2:n.1301G>T
ENST00000472328.2:n.852G>T
ENST00000491610.2:n.746G>T
ENST00000676607.1:n.1082G>T
ENST00000676627.1:n.1516G>T
ENST00000676708.1:n.2066G>T
ENST00000676864.1:n.1935G>T
ENST00000677010.1:c.822G>T	ENSP00000503089.1:p.Leu274Phe
ENST00000677108.1:n.2692G>T
ENST00000677168.1:n.1258G>T
ENST00000677185.1:n.1349G>T
ENST00000677205.1:n.1570G>T
ENST00000677344.1:n.2060G>T
ENST00000677480.1:c.*463G>T	ENSP00000504378.1:n.*463G>T
ENST00000677519.1:n.1496G>T
ENST00000677593.1:n.1342G>T
ENST00000677740.1:n.2291G>T
ENST00000677991.1:n.1959G>T
ENST00000678001.1:n.1279G>T
ENST00000678085.1:n.1342G>T
ENST00000678177.1:n.2635G>T
ENST00000678603.1:n.1864G>T
ENST00000678724.1:c.711G>T	ENSP00000503874.1:p.Leu237Phe
ENST00000678920.1:n.944G>T
ENST00000679019.1:n.1556G>T
ENST00000679117.1:c.*601G>T	ENSP00000503240.1:n.*601G>T
ENST00000679339.1:n.1627G>T
ENST00000326739.8:c.786G>T	ENSP00000321584.4:p.Leu262Phe
ENST00000429182.5:c.580G>T
ENST00000442157.1:c.711G>T	ENSP00000403502.1:p.Leu237Phe
ENST00000462980.1:n.688G>T
ENST00000491610.1:n.746G>T
NM_000884.2:c.786G>T	NP_000875.2:p.Leu262Phe
XM_006713128.2:c.996G>T	XP_006713191.1:p.Leu332Phe
XM_006713128.3:c.996G>T	XP_006713191.1:p.Leu332Phe
XM_017006349.1:c.921G>T	XP_016861838.1:p.Leu307Phe
XM_017006350.1:c.921G>T	XP_016861839.1:p.Leu307Phe
NM_000884.3:c.786G>T MANE Select	NP_000875.2:p.Leu262Phe