Canonical Allele Identifier: CA1188179390
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628694C= , CM000663.2:g.109628694C= GRCh38
NC_000001.10:g.110171316C= , CM000663.1:g.110171316C= GRCh37
NC_000001.9:g.109972839C= NCBI36
NG_034075.1:g.13882C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1459C= ENSP00000256578.4:p.Leu487=
ENST00000358729.9:c.1459C= ENSP00000351573.5:p.Leu487=
ENST00000369840.7:c.1459C= ENSP00000358855.3:p.Leu487=
ENST00000474459.6:n.2078C=
ENST00000476688.3:c.1141C= ENSP00000437025.2:p.Leu381=
ENST00000486282.7:n.2415C=
ENST00000524975.2:n.1940C=
ENST00000525415.2:n.1975C=
ENST00000526301.6:n.1522C=
ENST00000527846.7:n.1314C=
ENST00000528667.7:c.1459C= MANE Select ENSP00000436541.2:p.Leu487=
ENST00000531203.6:c.1267C= ENSP00000431975.2:p.Leu423=
ENST00000531734.6:c.1378C= ENSP00000433739.2:p.Leu460=
ENST00000652975.2:c.*1211C= ENSP00000499620.2:n.*1211C=
ENST00000654851.1:n.1301C=
ENST00000655992.1:c.1267C= ENSP00000499740.1:p.Leu423=
ENST00000659122.2:c.1407+199C= ENSP00000499621.2:n.1407+199C=
ENST00000663749.1:c.*1206C= ENSP00000499739.1:n.*1206C=
ENST00000667949.2:c.859C= ENSP00000499465.2:p.Leu287=
ENST00000668421.1:c.*1400C= ENSP00000499362.1:n.*1400C=
ENST00000679379.1:c.*1211C= ENSP00000505528.1:n.*1211C=
ENST00000679593.1:c.1459C= ENSP00000505999.1:p.Leu487=
ENST00000679880.1:n.1995C=
ENST00000679892.1:c.*1227C= ENSP00000504882.1:n.*1227C=
ENST00000679981.1:c.*1473C= ENSP00000506422.1:n.*1473C=
ENST00000680132.1:c.*1409C= ENSP00000505950.1:n.*1409C=
ENST00000680148.1:c.*1211C= ENSP00000505994.1:n.*1211C=
ENST00000680170.1:n.2324C=
ENST00000680192.1:n.2417C=
ENST00000680519.1:n.1695C=
ENST00000680531.1:c.*1206C= ENSP00000506332.1:n.*1206C=
ENST00000680820.1:c.*1211C= ENSP00000505735.1:n.*1211C=
ENST00000680832.1:c.*1559C= ENSP00000505774.1:n.*1559C=
ENST00000680929.1:c.*1148C= ENSP00000504916.1:n.*1148C=
ENST00000681108.1:c.*1245+199C= ENSP00000506701.1:n.*1245+199C=
ENST00000681121.1:c.*569C= ENSP00000506466.1:n.*569C=
ENST00000681132.1:c.*1225C= ENSP00000506195.1:n.*1225C=
ENST00000681181.1:c.*1444C= ENSP00000506038.1:n.*1444C=
ENST00000681218.1:c.*1732C= ENSP00000505976.1:n.*1732C=
ENST00000681246.1:c.*1115C= ENSP00000505534.1:n.*1115C=
ENST00000681496.1:c.*1732C= ENSP00000505948.1:n.*1732C=
ENST00000681834.1:n.1798C=
ENST00000681862.1:c.*1585C= ENSP00000505537.1:n.*1585C=
ENST00000256578.7:c.1621C= ENSP00000256578.3:p.Leu541=
ENST00000342115.8:c.1378C= ENSP00000345498.4:p.Leu460=
ENST00000358729.8:c.1396C= ENSP00000351573.4:p.Leu466=
ENST00000369840.6:c.1532C=
ENST00000393688.7:c.1264C= ENSP00000377292.3:p.Leu422=
ENST00000526301.5:n.1660C=
ENST00000528454.5:c.1267C= ENSP00000437164.1:p.Leu423=
ENST00000528667.5:c.1621C= ENSP00000436541.1:p.Leu541=
ENST00000532851.1:n.169C=
ENST00000533132.1:n.161C=
NM_001257360.1:c.1621C= NP_001244289.1:p.Leu541=
NM_001257361.1:c.1267C= NP_001244290.1:p.Leu423=
NM_001308170.1:c.1396C= NP_001295099.1:p.Leu466=
NM_004037.7:c.1621C= NP_004028.3:p.Leu541=
NM_139156.3:c.1378C= NP_631895.1:p.Leu460=
NM_203404.1:c.1264C= NP_981949.1:p.Leu422=
XM_011541247.1:c.1834C= XP_011539549.1:p.Leu612=
XM_011541248.1:c.1782+199C= XP_011539550.1:n.1782+199C=
XR_946607.1:n.1857C=
XM_024446431.1:c.1396C= XP_024302199.1:p.Leu466=
XM_024446432.1:c.1430+199C= XP_024302200.1:n.1430+199C=
XR_002956282.1:n.2032C=
NM_001257360.2:c.1621C= NP_001244289.1:p.Leu541=
NM_001368809.2:c.1459C= MANE Select NP_001355738.1:p.Leu487=
NM_004037.9:c.1459C= NP_004028.4:p.Leu487=
NM_001257361.2:c.1267C= NP_001244290.1:p.Leu423=
NM_139156.4:c.1378C= NP_631895.1:p.Leu460=