Canonical Allele Identifier: CA419373907
Community Standard Title: NM_001368809.2(AMPD2):c.2064C>T (p.Leu688=)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109630313C>T , CM000663.2:g.109630313C>T GRCh38
NC_000001.10:g.110172935C>T , CM000663.1:g.110172935C>T GRCh37
NC_000001.9:g.109974458C>T NCBI36
NG_034075.1:g.15501C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.2064C>T MANE Select NP_001355738.1:p.Leu688=
ENST00000528667.7:c.2064C>T MANE Select ENSP00000436541.2:p.Leu688=
NM_001257360.1:c.2226C>T NP_001244289.1:p.Leu742=
NM_001257360.2:c.2226C>T NP_001244289.1:p.Leu742=
NM_001257361.1:c.1872C>T NP_001244290.1:p.Leu624=
NM_001257361.2:c.1872C>T NP_001244290.1:p.Leu624=
NM_001308170.1:c.2001C>T NP_001295099.1:p.Leu667=
NM_004037.7:c.2226C>T NP_004028.3:p.Leu742=
NM_004037.9:c.2064C>T NP_004028.4:p.Leu688=
NM_139156.3:c.1983C>T NP_631895.1:p.Leu661=
NM_139156.4:c.1983C>T NP_631895.1:p.Leu661=
NM_203404.1:c.1869C>T NP_981949.1:p.Leu623=
ENST00000256578.7:c.2226C>T ENSP00000256578.3:p.Leu742=
ENST00000256578.8:c.2064C>T ENSP00000256578.4:p.Leu688=
ENST00000342115.8:c.1983C>T ENSP00000345498.4:p.Leu661=
ENST00000358729.8:c.2001C>T ENSP00000351573.4:p.Leu667=
ENST00000358729.9:c.2064C>T ENSP00000351573.5:p.Leu688=
ENST00000369840.6:c.2137C>T
ENST00000369840.7:c.2064C>T ENSP00000358855.3:p.Leu688=
ENST00000393688.7:c.1869C>T ENSP00000377292.3:p.Leu623=
ENST00000474459.6:n.2683C>T
ENST00000476688.2:c.392C>T
ENST00000476688.3:c.1746C>T ENSP00000437025.2:p.Leu582=
ENST00000479919.1:n.388C>T
ENST00000486282.7:n.3318C>T
ENST00000524975.2:n.2847C>T
ENST00000525415.2:n.2576C>T
ENST00000526301.5:n.2261C>T
ENST00000526301.6:n.2127C>T
ENST00000527846.7:n.1919C>T
ENST00000528454.5:c.1872C>T ENSP00000437164.1:p.Leu624=
ENST00000528667.5:c.2226C>T ENSP00000436541.1:p.Leu742=
ENST00000531203.6:c.1872C>T ENSP00000431975.2:p.Leu624=
ENST00000531734.6:c.1983C>T ENSP00000433739.2:p.Leu661=
ENST00000652975.2:c.*1695C>T ENSP00000499620.2:n.*1695C>T
ENST00000654851.1:n.1906C>T
ENST00000655992.1:c.*173C>T ENSP00000499740.1:n.*173C>T
ENST00000659122.2:c.1900C>T ENSP00000499621.2:n.1900C>T
ENST00000663749.1:c.*1690C>T ENSP00000499739.1:n.*1690C>T
ENST00000667949.2:c.1464C>T ENSP00000499465.2:p.Leu488=
ENST00000668421.1:c.*2005C>T ENSP00000499362.1:n.*2005C>T
ENST00000679379.1:c.*1816C>T ENSP00000505528.1:n.*1816C>T
ENST00000679593.1:c.*173C>T ENSP00000505999.1:n.*173C>T
ENST00000679880.1:n.2600C>T
ENST00000679892.1:c.*1832C>T ENSP00000504882.1:n.*1832C>T
ENST00000679981.1:c.*2078C>T ENSP00000506422.1:n.*2078C>T
ENST00000680132.1:c.*2014C>T ENSP00000505950.1:n.*2014C>T
ENST00000680148.1:c.*1812C>T ENSP00000505994.1:n.*1812C>T
ENST00000680170.1:n.2929C>T
ENST00000680192.1:n.3324C>T
ENST00000680519.1:n.2300C>T
ENST00000680531.1:c.*1811C>T ENSP00000506332.1:n.*1811C>T
ENST00000680820.1:c.*2118C>T ENSP00000505735.1:n.*2118C>T
ENST00000680832.1:c.*2164C>T ENSP00000505774.1:n.*2164C>T
ENST00000680929.1:c.*1753C>T ENSP00000504916.1:n.*1753C>T
ENST00000681108.1:c.*1738C>T ENSP00000506701.1:n.*1738C>T
ENST00000681121.1:c.*1174C>T ENSP00000506466.1:n.*1174C>T
ENST00000681132.1:c.*1830C>T ENSP00000506195.1:n.*1830C>T
ENST00000681181.1:c.*2351C>T ENSP00000506038.1:n.*2351C>T
ENST00000681218.1:c.*2333C>T ENSP00000505976.1:n.*2333C>T
ENST00000681246.1:c.*1720C>T ENSP00000505534.1:n.*1720C>T
ENST00000681496.1:c.*2337C>T ENSP00000505948.1:n.*2337C>T
ENST00000681834.1:n.2708C>T
ENST00000681862.1:c.*2190C>T ENSP00000505537.1:n.*2190C>T
XM_011541247.1:c.2439C>T XP_011539549.1:p.Leu813=
XM_024446431.1:c.2001C>T XP_024302199.1:p.Leu667=
XM_024446432.1:c.1923C>T XP_024302200.1:p.Leu641=
XR_002956282.1:n.2516C>T
XR_946607.1:n.2341C>T