Canonical Allele Identifier: CA156217
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109630740G>T , CM000663.2:g.109630740G>T GRCh38
NC_000001.10:g.110173362G>T , CM000663.1:g.110173362G>T GRCh37
NC_000001.9:g.109974885G>T NCBI36
NG_034075.1:g.15928G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.2215G>T ENSP00000256578.4:p.Asp739Tyr
ENST00000358729.9:c.2158-203G>T ENSP00000351573.5:n.2158-203G>T
ENST00000369840.7:c.2248G>T ENSP00000358855.3:p.Asp750Tyr
ENST00000474459.6:n.2834G>T
ENST00000476688.3:c.1897G>T ENSP00000437025.2:p.Asp633Tyr
ENST00000486282.7:n.3469G>T
ENST00000524975.2:n.2998G>T
ENST00000525415.2:n.2727G>T
ENST00000526301.6:n.2278G>T
ENST00000527846.7:n.2070G>T
ENST00000528667.7:c.2215G>T MANE Select ENSP00000436541.2:p.Asp739Tyr
ENST00000531203.6:c.2023G>T ENSP00000431975.2:p.Asp675Tyr
ENST00000531734.6:c.2134G>T ENSP00000433739.2:p.Asp712Tyr
ENST00000652975.2:c.*1846G>T ENSP00000499620.2:n.*1846G>T
ENST00000654851.1:n.2057G>T
ENST00000659122.2:c.2051G>T ENSP00000499621.2:n.2051G>T
ENST00000663749.1:c.*1841G>T ENSP00000499739.1:n.*1841G>T
ENST00000667949.2:c.1615G>T ENSP00000499465.2:p.Asp539Tyr
ENST00000668421.1:c.*2156G>T ENSP00000499362.1:n.*2156G>T
ENST00000679379.1:c.*1967G>T ENSP00000505528.1:n.*1967G>T
ENST00000679593.1:c.*324G>T ENSP00000505999.1:n.*324G>T
ENST00000679880.1:n.2751G>T
ENST00000679892.1:c.*1983G>T ENSP00000504882.1:n.*1983G>T
ENST00000679981.1:c.*2229G>T ENSP00000506422.1:n.*2229G>T
ENST00000680132.1:c.*2165G>T ENSP00000505950.1:n.*2165G>T
ENST00000680148.1:c.*1963G>T ENSP00000505994.1:n.*1963G>T
ENST00000680170.1:n.3080G>T
ENST00000680192.1:n.3475G>T
ENST00000680519.1:n.2451G>T
ENST00000680531.1:c.*1962G>T ENSP00000506332.1:n.*1962G>T
ENST00000680820.1:c.*2269G>T ENSP00000505735.1:n.*2269G>T
ENST00000680832.1:c.*2315G>T ENSP00000505774.1:n.*2315G>T
ENST00000680929.1:c.*1904G>T ENSP00000504916.1:n.*1904G>T
ENST00000681108.1:c.*1889G>T ENSP00000506701.1:n.*1889G>T
ENST00000681121.1:c.*1325G>T ENSP00000506466.1:n.*1325G>T
ENST00000681132.1:c.*1981G>T ENSP00000506195.1:n.*1981G>T
ENST00000681181.1:c.*2502G>T ENSP00000506038.1:n.*2502G>T
ENST00000681218.1:c.*2484G>T ENSP00000505976.1:n.*2484G>T
ENST00000681246.1:c.*1871G>T ENSP00000505534.1:n.*1871G>T
ENST00000681496.1:c.*2488G>T ENSP00000505948.1:n.*2488G>T
ENST00000681834.1:n.2859G>T
ENST00000681862.1:c.*2341G>T ENSP00000505537.1:n.*2341G>T
ENST00000256578.7:c.2377G>T ENSP00000256578.3:p.Asp793Tyr
ENST00000342115.8:c.2134G>T ENSP00000345498.4:p.Asp712Tyr
ENST00000358729.8:c.2152G>T ENSP00000351573.4:p.Asp718Tyr
ENST00000369840.6:c.2321G>T
ENST00000393688.7:c.2020G>T ENSP00000377292.3:p.Asp674Tyr
ENST00000476688.2:c.486-203G>T
ENST00000479919.1:n.539G>T
ENST00000528454.5:c.2023G>T ENSP00000437164.1:p.Asp675Tyr
ENST00000528667.5:c.2377G>T ENSP00000436541.1:p.Asp793Tyr
ENST00000528958.1:n.103G>T
NM_001257360.1:c.2377G>T NP_001244289.1:p.Asp793Tyr
NM_001257361.1:c.2023G>T NP_001244290.1:p.Asp675Tyr
NM_001308170.1:c.2152G>T NP_001295099.1:p.Asp718Tyr
NM_004037.7:c.2377G>T NP_004028.3:p.Asp793Tyr
NM_139156.3:c.2134G>T NP_631895.1:p.Asp712Tyr
NM_203404.1:c.2020G>T NP_981949.1:p.Asp674Tyr
XM_011541247.1:c.2590G>T XP_011539549.1:p.Asp864Tyr
XR_946607.1:n.2492G>T
XM_024446431.1:c.2152G>T XP_024302199.1:p.Asp718Tyr
XM_024446432.1:c.2074G>T XP_024302200.1:p.Asp692Tyr
XR_002956282.1:n.2667G>T
NM_001257360.2:c.2377G>T NP_001244289.1:p.Asp793Tyr
NM_001368809.2:c.2215G>T MANE Select NP_001355738.1:p.Asp739Tyr
NM_004037.9:c.2215G>T NP_004028.4:p.Asp739Tyr
NM_001257361.2:c.2023G>T NP_001244290.1:p.Asp675Tyr
NM_139156.4:c.2134G>T NP_631895.1:p.Asp712Tyr