Canonical Allele Identifier: CA341559036
Gene: AMPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628688C>A , CM000663.2:g.109628688C>A GRCh38
NC_000001.10:g.110171310C>A , CM000663.1:g.110171310C>A GRCh37
NC_000001.9:g.109972833C>A NCBI36
NG_034075.1:g.13876C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1453C>A ENSP00000256578.4:p.Leu485Met
ENST00000358729.9:c.1453C>A ENSP00000351573.5:p.Leu485Met
ENST00000369840.7:c.1453C>A ENSP00000358855.3:p.Leu485Met
ENST00000474459.6:n.2072C>A
ENST00000476688.3:c.1135C>A ENSP00000437025.2:p.Leu379Met
ENST00000486282.7:n.2409C>A
ENST00000524975.2:n.1934C>A
ENST00000525415.2:n.1969C>A
ENST00000526301.6:n.1516C>A
ENST00000527846.7:n.1308C>A
ENST00000528667.7:c.1453C>A MANE Select ENSP00000436541.2:p.Leu485Met
ENST00000531203.6:c.1261C>A ENSP00000431975.2:p.Leu421Met
ENST00000531734.6:c.1372C>A ENSP00000433739.2:p.Leu458Met
ENST00000652975.2:c.*1205C>A ENSP00000499620.2:n.*1205C>A
ENST00000654851.1:n.1295C>A
ENST00000655992.1:c.1261C>A ENSP00000499740.1:p.Leu421Met
ENST00000659122.2:c.1407+193C>A ENSP00000499621.2:n.1407+193C>A
ENST00000663749.1:c.*1200C>A ENSP00000499739.1:n.*1200C>A
ENST00000667949.2:c.853C>A ENSP00000499465.2:p.Leu285Met
ENST00000668421.1:c.*1394C>A ENSP00000499362.1:n.*1394C>A
ENST00000679379.1:c.*1205C>A ENSP00000505528.1:n.*1205C>A
ENST00000679593.1:c.1453C>A ENSP00000505999.1:p.Leu485Met
ENST00000679880.1:n.1989C>A
ENST00000679892.1:c.*1221C>A ENSP00000504882.1:n.*1221C>A
ENST00000679981.1:c.*1467C>A ENSP00000506422.1:n.*1467C>A
ENST00000680132.1:c.*1403C>A ENSP00000505950.1:n.*1403C>A
ENST00000680148.1:c.*1205C>A ENSP00000505994.1:n.*1205C>A
ENST00000680170.1:n.2318C>A
ENST00000680192.1:n.2411C>A
ENST00000680519.1:n.1689C>A
ENST00000680531.1:c.*1200C>A ENSP00000506332.1:n.*1200C>A
ENST00000680820.1:c.*1205C>A ENSP00000505735.1:n.*1205C>A
ENST00000680832.1:c.*1553C>A ENSP00000505774.1:n.*1553C>A
ENST00000680929.1:c.*1142C>A ENSP00000504916.1:n.*1142C>A
ENST00000681108.1:c.*1245+193C>A ENSP00000506701.1:n.*1245+193C>A
ENST00000681121.1:c.*563C>A ENSP00000506466.1:n.*563C>A
ENST00000681132.1:c.*1219C>A ENSP00000506195.1:n.*1219C>A
ENST00000681181.1:c.*1438C>A ENSP00000506038.1:n.*1438C>A
ENST00000681218.1:c.*1726C>A ENSP00000505976.1:n.*1726C>A
ENST00000681246.1:c.*1109C>A ENSP00000505534.1:n.*1109C>A
ENST00000681496.1:c.*1726C>A ENSP00000505948.1:n.*1726C>A
ENST00000681834.1:n.1792C>A
ENST00000681862.1:c.*1579C>A ENSP00000505537.1:n.*1579C>A
ENST00000256578.7:c.1615C>A ENSP00000256578.3:p.Leu539Met
ENST00000342115.8:c.1372C>A ENSP00000345498.4:p.Leu458Met
ENST00000358729.8:c.1390C>A ENSP00000351573.4:p.Leu464Met
ENST00000369840.6:c.1526C>A
ENST00000393688.7:c.1258C>A ENSP00000377292.3:p.Leu420Met
ENST00000526301.5:n.1654C>A
ENST00000528454.5:c.1261C>A ENSP00000437164.1:p.Leu421Met
ENST00000528667.5:c.1615C>A ENSP00000436541.1:p.Leu539Met
ENST00000532851.1:n.163C>A
ENST00000533132.1:n.155C>A
NM_001257360.1:c.1615C>A NP_001244289.1:p.Leu539Met
NM_001257361.1:c.1261C>A NP_001244290.1:p.Leu421Met
NM_001308170.1:c.1390C>A NP_001295099.1:p.Leu464Met
NM_004037.7:c.1615C>A NP_004028.3:p.Leu539Met
NM_139156.3:c.1372C>A NP_631895.1:p.Leu458Met
NM_203404.1:c.1258C>A NP_981949.1:p.Leu420Met
XM_011541247.1:c.1828C>A XP_011539549.1:p.Leu610Met
XM_011541248.1:c.1782+193C>A XP_011539550.1:n.1782+193C>A
XR_946607.1:n.1851C>A
XM_024446431.1:c.1390C>A XP_024302199.1:p.Leu464Met
XM_024446432.1:c.1430+193C>A XP_024302200.1:n.1430+193C>A
XR_002956282.1:n.2026C>A
NM_001257360.2:c.1615C>A NP_001244289.1:p.Leu539Met
NM_001368809.2:c.1453C>A MANE Select NP_001355738.1:p.Leu485Met
NM_004037.9:c.1453C>A NP_004028.4:p.Leu485Met
NM_001257361.2:c.1261C>A NP_001244290.1:p.Leu421Met
NM_139156.4:c.1372C>A NP_631895.1:p.Leu458Met