Canonical Allele Identifier: CA993390
Community Standard Title: NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109631040G>A , CM000663.2:g.109631040G>A GRCh38
NC_000001.10:g.110173662G>A , CM000663.1:g.110173662G>A GRCh37
NC_000001.9:g.109975185G>A NCBI36
NG_034075.1:g.16228G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.2366G>A MANE Select NP_001355738.1:p.Arg789His
ENST00000528667.7:c.2366G>A MANE Select ENSP00000436541.2:p.Arg789His
NM_001257360.1:c.2528G>A NP_001244289.1:p.Arg843His
NM_001257360.2:c.2528G>A NP_001244289.1:p.Arg843His
NM_001257361.1:c.2174G>A NP_001244290.1:p.Arg725His
NM_001257361.2:c.2174G>A NP_001244290.1:p.Arg725His
NM_001308170.1:c.2303G>A NP_001295099.1:p.Arg768His
NM_004037.7:c.2528G>A NP_004028.3:p.Arg843His
NM_004037.9:c.2366G>A NP_004028.4:p.Arg789His
NM_139156.3:c.2285G>A NP_631895.1:p.Arg762His
NM_139156.4:c.2285G>A NP_631895.1:p.Arg762His
NM_203404.1:c.2171G>A NP_981949.1:p.Arg724His
ENST00000256578.7:c.2528G>A ENSP00000256578.3:p.Arg843His
ENST00000256578.8:c.2366G>A ENSP00000256578.4:p.Arg789His
ENST00000342115.8:c.2285G>A ENSP00000345498.4:p.Arg762His
ENST00000358729.8:c.2303G>A ENSP00000351573.4:p.Arg768His
ENST00000358729.9:c.2255G>A ENSP00000351573.5:p.Arg752His
ENST00000369840.6:c.2472G>A
ENST00000369840.7:c.2399G>A ENSP00000358855.3:p.Arg800His
ENST00000393688.7:c.2171G>A ENSP00000377292.3:p.Arg724His
ENST00000474459.6:n.2985G>A
ENST00000476688.2:c.583G>A
ENST00000476688.3:c.2048G>A ENSP00000437025.2:p.Arg683His
ENST00000479919.1:n.690G>A
ENST00000486282.7:n.3620G>A
ENST00000524975.2:n.3149G>A
ENST00000525415.2:n.2878G>A
ENST00000526301.6:n.2429G>A
ENST00000527846.7:n.2221G>A
ENST00000528454.5:c.2174G>A ENSP00000437164.1:p.Arg725His
ENST00000528667.5:c.2528G>A ENSP00000436541.1:p.Arg843His
ENST00000528958.1:n.254G>A
ENST00000531203.6:c.2174G>A ENSP00000431975.2:p.Arg725His
ENST00000531734.6:c.2285G>A ENSP00000433739.2:p.Arg762His
ENST00000652975.2:c.*1997G>A ENSP00000499620.2:n.*1997G>A
ENST00000654851.1:n.2208G>A
ENST00000659122.2:c.2202G>A ENSP00000499621.2:n.2202G>A
ENST00000663749.1:c.*1992G>A ENSP00000499739.1:n.*1992G>A
ENST00000667949.2:c.1766G>A ENSP00000499465.2:p.Arg589His
ENST00000668421.1:c.*2307G>A ENSP00000499362.1:n.*2307G>A
ENST00000679379.1:c.*2118G>A ENSP00000505528.1:n.*2118G>A
ENST00000679593.1:c.*475G>A ENSP00000505999.1:n.*475G>A
ENST00000679880.1:n.2902G>A
ENST00000679892.1:c.*2134G>A ENSP00000504882.1:n.*2134G>A
ENST00000679981.1:c.*2380G>A ENSP00000506422.1:n.*2380G>A
ENST00000680132.1:c.*2316G>A ENSP00000505950.1:n.*2316G>A
ENST00000680148.1:c.*2114G>A ENSP00000505994.1:n.*2114G>A
ENST00000680170.1:n.3231G>A
ENST00000680192.1:n.3626G>A
ENST00000680519.1:n.2602G>A
ENST00000680531.1:c.*2113G>A ENSP00000506332.1:n.*2113G>A
ENST00000680820.1:c.*2420G>A ENSP00000505735.1:n.*2420G>A
ENST00000680832.1:c.*2466G>A ENSP00000505774.1:n.*2466G>A
ENST00000680929.1:c.*2055G>A ENSP00000504916.1:n.*2055G>A
ENST00000681108.1:c.*2040G>A ENSP00000506701.1:n.*2040G>A
ENST00000681121.1:c.*1476G>A ENSP00000506466.1:n.*1476G>A
ENST00000681132.1:c.*2132G>A ENSP00000506195.1:n.*2132G>A
ENST00000681181.1:c.*2653G>A ENSP00000506038.1:n.*2653G>A
ENST00000681218.1:c.*2635G>A ENSP00000505976.1:n.*2635G>A
ENST00000681246.1:c.*2022G>A ENSP00000505534.1:n.*2022G>A
ENST00000681496.1:c.*2639G>A ENSP00000505948.1:n.*2639G>A
ENST00000681834.1:n.3010G>A
ENST00000681862.1:c.*2492G>A ENSP00000505537.1:n.*2492G>A
XM_011541247.1:c.2741G>A XP_011539549.1:p.Arg914His
XM_024446431.1:c.2303G>A XP_024302199.1:p.Arg768His
XM_024446432.1:c.2225G>A XP_024302200.1:p.Arg742His
XR_002956282.1:n.2818G>A
XR_946607.1:n.2643G>A