Canonical Allele Identifier: CA341563440
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109631022A>T , CM000663.2:g.109631022A>T GRCh38
NC_000001.10:g.110173644A>T , CM000663.1:g.110173644A>T GRCh37
NC_000001.9:g.109975167A>T NCBI36
NG_034075.1:g.16210A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.2348A>T ENSP00000256578.4:p.Asp783Val
ENST00000358729.9:c.2237A>T ENSP00000351573.5:p.Asp746Val
ENST00000369840.7:c.2381A>T ENSP00000358855.3:p.Asp794Val
ENST00000474459.6:n.2967A>T
ENST00000476688.3:c.2030A>T ENSP00000437025.2:p.Asp677Val
ENST00000486282.7:n.3602A>T
ENST00000524975.2:n.3131A>T
ENST00000525415.2:n.2860A>T
ENST00000526301.6:n.2411A>T
ENST00000527846.7:n.2203A>T
ENST00000528667.7:c.2348A>T MANE Select ENSP00000436541.2:p.Asp783Val
ENST00000531203.6:c.2156A>T ENSP00000431975.2:p.Asp719Val
ENST00000531734.6:c.2267A>T ENSP00000433739.2:p.Asp756Val
ENST00000652975.2:c.*1979A>T ENSP00000499620.2:n.*1979A>T
ENST00000654851.1:n.2190A>T
ENST00000659122.2:c.2184A>T ENSP00000499621.2:n.2184A>T
ENST00000663749.1:c.*1974A>T ENSP00000499739.1:n.*1974A>T
ENST00000667949.2:c.1748A>T ENSP00000499465.2:p.Asp583Val
ENST00000668421.1:c.*2289A>T ENSP00000499362.1:n.*2289A>T
ENST00000679379.1:c.*2100A>T ENSP00000505528.1:n.*2100A>T
ENST00000679593.1:c.*457A>T ENSP00000505999.1:n.*457A>T
ENST00000679880.1:n.2884A>T
ENST00000679892.1:c.*2116A>T ENSP00000504882.1:n.*2116A>T
ENST00000679981.1:c.*2362A>T ENSP00000506422.1:n.*2362A>T
ENST00000680132.1:c.*2298A>T ENSP00000505950.1:n.*2298A>T
ENST00000680148.1:c.*2096A>T ENSP00000505994.1:n.*2096A>T
ENST00000680170.1:n.3213A>T
ENST00000680192.1:n.3608A>T
ENST00000680519.1:n.2584A>T
ENST00000680531.1:c.*2095A>T ENSP00000506332.1:n.*2095A>T
ENST00000680820.1:c.*2402A>T ENSP00000505735.1:n.*2402A>T
ENST00000680832.1:c.*2448A>T ENSP00000505774.1:n.*2448A>T
ENST00000680929.1:c.*2037A>T ENSP00000504916.1:n.*2037A>T
ENST00000681108.1:c.*2022A>T ENSP00000506701.1:n.*2022A>T
ENST00000681121.1:c.*1458A>T ENSP00000506466.1:n.*1458A>T
ENST00000681132.1:c.*2114A>T ENSP00000506195.1:n.*2114A>T
ENST00000681181.1:c.*2635A>T ENSP00000506038.1:n.*2635A>T
ENST00000681218.1:c.*2617A>T ENSP00000505976.1:n.*2617A>T
ENST00000681246.1:c.*2004A>T ENSP00000505534.1:n.*2004A>T
ENST00000681496.1:c.*2621A>T ENSP00000505948.1:n.*2621A>T
ENST00000681834.1:n.2992A>T
ENST00000681862.1:c.*2474A>T ENSP00000505537.1:n.*2474A>T
ENST00000256578.7:c.2510A>T ENSP00000256578.3:p.Asp837Val
ENST00000342115.8:c.2267A>T ENSP00000345498.4:p.Asp756Val
ENST00000358729.8:c.2285A>T ENSP00000351573.4:p.Asp762Val
ENST00000369840.6:c.2454A>T
ENST00000393688.7:c.2153A>T ENSP00000377292.3:p.Asp718Val
ENST00000476688.2:c.565A>T
ENST00000479919.1:n.672A>T
ENST00000528454.5:c.2156A>T ENSP00000437164.1:p.Asp719Val
ENST00000528667.5:c.2510A>T ENSP00000436541.1:p.Asp837Val
ENST00000528958.1:n.236A>T
NM_001257360.1:c.2510A>T NP_001244289.1:p.Asp837Val
NM_001257361.1:c.2156A>T NP_001244290.1:p.Asp719Val
NM_001308170.1:c.2285A>T NP_001295099.1:p.Asp762Val
NM_004037.7:c.2510A>T NP_004028.3:p.Asp837Val
NM_139156.3:c.2267A>T NP_631895.1:p.Asp756Val
NM_203404.1:c.2153A>T NP_981949.1:p.Asp718Val
XM_011541247.1:c.2723A>T XP_011539549.1:p.Asp908Val
XR_946607.1:n.2625A>T
XM_024446431.1:c.2285A>T XP_024302199.1:p.Asp762Val
XM_024446432.1:c.2207A>T XP_024302200.1:p.Asp736Val
XR_002956282.1:n.2800A>T
NM_001257360.2:c.2510A>T NP_001244289.1:p.Asp837Val
NM_001368809.2:c.2348A>T MANE Select NP_001355738.1:p.Asp783Val
NM_004037.9:c.2348A>T NP_004028.4:p.Asp783Val
NM_001257361.2:c.2156A>T NP_001244290.1:p.Asp719Val
NM_139156.4:c.2267A>T NP_631895.1:p.Asp756Val