Canonical Allele Identifier: CA993280
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109630373C>T , CM000663.2:g.109630373C>T GRCh38
NC_000001.10:g.110172995C>T , CM000663.1:g.110172995C>T GRCh37
NC_000001.9:g.109974518C>T NCBI36
NG_034075.1:g.15561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.2124C>T ENSP00000256578.4:p.Ser708=
ENST00000358729.9:c.2124C>T ENSP00000351573.5:p.Ser708=
ENST00000369840.7:c.2124C>T ENSP00000358855.3:p.Ser708=
ENST00000474459.6:n.2743C>T
ENST00000476688.3:c.1806C>T ENSP00000437025.2:p.Ser602=
ENST00000486282.7:n.3378C>T
ENST00000524975.2:n.2907C>T
ENST00000525415.2:n.2636C>T
ENST00000526301.6:n.2187C>T
ENST00000527846.7:n.1979C>T
ENST00000528667.7:c.2124C>T MANE Select ENSP00000436541.2:p.Ser708=
ENST00000531203.6:c.1932C>T ENSP00000431975.2:p.Ser644=
ENST00000531734.6:c.2043C>T ENSP00000433739.2:p.Ser681=
ENST00000652975.2:c.*1755C>T ENSP00000499620.2:n.*1755C>T
ENST00000654851.1:n.1966C>T
ENST00000655992.1:c.*233C>T ENSP00000499740.1:n.*233C>T
ENST00000659122.2:c.1960C>T ENSP00000499621.2:n.1960C>T
ENST00000663749.1:c.*1750C>T ENSP00000499739.1:n.*1750C>T
ENST00000667949.2:c.1524C>T ENSP00000499465.2:p.Ser508=
ENST00000668421.1:c.*2065C>T ENSP00000499362.1:n.*2065C>T
ENST00000679379.1:c.*1876C>T ENSP00000505528.1:n.*1876C>T
ENST00000679593.1:c.*233C>T ENSP00000505999.1:n.*233C>T
ENST00000679880.1:n.2660C>T
ENST00000679892.1:c.*1892C>T ENSP00000504882.1:n.*1892C>T
ENST00000679981.1:c.*2138C>T ENSP00000506422.1:n.*2138C>T
ENST00000680132.1:c.*2074C>T ENSP00000505950.1:n.*2074C>T
ENST00000680148.1:c.*1872C>T ENSP00000505994.1:n.*1872C>T
ENST00000680170.1:n.2989C>T
ENST00000680192.1:n.3384C>T
ENST00000680519.1:n.2360C>T
ENST00000680531.1:c.*1871C>T ENSP00000506332.1:n.*1871C>T
ENST00000680820.1:c.*2178C>T ENSP00000505735.1:n.*2178C>T
ENST00000680832.1:c.*2224C>T ENSP00000505774.1:n.*2224C>T
ENST00000680929.1:c.*1813C>T ENSP00000504916.1:n.*1813C>T
ENST00000681108.1:c.*1798C>T ENSP00000506701.1:n.*1798C>T
ENST00000681121.1:c.*1234C>T ENSP00000506466.1:n.*1234C>T
ENST00000681132.1:c.*1890C>T ENSP00000506195.1:n.*1890C>T
ENST00000681181.1:c.*2411C>T ENSP00000506038.1:n.*2411C>T
ENST00000681218.1:c.*2393C>T ENSP00000505976.1:n.*2393C>T
ENST00000681246.1:c.*1780C>T ENSP00000505534.1:n.*1780C>T
ENST00000681496.1:c.*2397C>T ENSP00000505948.1:n.*2397C>T
ENST00000681834.1:n.2768C>T
ENST00000681862.1:c.*2250C>T ENSP00000505537.1:n.*2250C>T
ENST00000256578.7:c.2286C>T ENSP00000256578.3:p.Ser762=
ENST00000342115.8:c.2043C>T ENSP00000345498.4:p.Ser681=
ENST00000358729.8:c.2061C>T ENSP00000351573.4:p.Ser687=
ENST00000369840.6:c.2197C>T
ENST00000393688.7:c.1929C>T ENSP00000377292.3:p.Ser643=
ENST00000476688.2:c.452C>T
ENST00000479919.1:n.448C>T
ENST00000526301.5:n.2321C>T
ENST00000528454.5:c.1932C>T ENSP00000437164.1:p.Ser644=
ENST00000528667.5:c.2286C>T ENSP00000436541.1:p.Ser762=
NM_001257360.1:c.2286C>T NP_001244289.1:p.Ser762=
NM_001257361.1:c.1932C>T NP_001244290.1:p.Ser644=
NM_001308170.1:c.2061C>T NP_001295099.1:p.Ser687=
NM_004037.7:c.2286C>T NP_004028.3:p.Ser762=
NM_139156.3:c.2043C>T NP_631895.1:p.Ser681=
NM_203404.1:c.1929C>T NP_981949.1:p.Ser643=
XM_011541247.1:c.2499C>T XP_011539549.1:p.Ser833=
XR_946607.1:n.2401C>T
XM_024446431.1:c.2061C>T XP_024302199.1:p.Ser687=
XM_024446432.1:c.1983C>T XP_024302200.1:p.Ser661=
XR_002956282.1:n.2576C>T
NM_001257360.2:c.2286C>T NP_001244289.1:p.Ser762=
NM_001368809.2:c.2124C>T MANE Select NP_001355738.1:p.Ser708=
NM_004037.9:c.2124C>T NP_004028.4:p.Ser708=
NM_001257361.2:c.1932C>T NP_001244290.1:p.Ser644=
NM_139156.4:c.2043C>T NP_631895.1:p.Ser681=