Canonical Allele Identifier: CA992820
Community Standard Title: NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109626416G>T , CM000663.2:g.109626416G>T GRCh38
NC_000001.10:g.110169038G>T , CM000663.1:g.110169038G>T GRCh37
NC_000001.9:g.109970561G>T NCBI36
NG_034075.1:g.11604G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.520G>T MANE Select NP_001355738.1:p.Glu174Ter
ENST00000528667.7:c.520G>T MANE Select ENSP00000436541.2:p.Glu174Ter
NM_001257360.1:c.682G>T NP_001244289.1:p.Glu228Ter
NM_001257360.2:c.682G>T NP_001244289.1:p.Glu228Ter
NM_001257361.1:c.328G>T NP_001244290.1:p.Glu110Ter
NM_001257361.2:c.328G>T NP_001244290.1:p.Glu110Ter
NM_001308170.1:c.457G>T NP_001295099.1:p.Glu153Ter
NM_004037.7:c.682G>T NP_004028.3:p.Glu228Ter
NM_004037.9:c.520G>T NP_004028.4:p.Glu174Ter
NM_139156.3:c.439G>T NP_631895.1:p.Glu147Ter
NM_139156.4:c.439G>T NP_631895.1:p.Glu147Ter
NM_203404.1:c.325G>T NP_981949.1:p.Glu109Ter
ENST00000256578.7:c.682G>T ENSP00000256578.3:p.Glu228Ter
ENST00000256578.8:c.520G>T ENSP00000256578.4:p.Glu174Ter
ENST00000342115.8:c.439G>T ENSP00000345498.4:p.Glu147Ter
ENST00000358729.8:c.457G>T ENSP00000351573.4:p.Glu153Ter
ENST00000358729.9:c.520G>T ENSP00000351573.5:p.Glu174Ter
ENST00000369840.6:c.593G>T
ENST00000369840.7:c.520G>T ENSP00000358855.3:p.Glu174Ter
ENST00000393688.7:c.325G>T ENSP00000377292.3:p.Glu109Ter
ENST00000459643.2:n.549G>T
ENST00000474459.5:c.-81G>T ENSP00000432344.1:n.-81G>T
ENST00000474459.6:n.877G>T
ENST00000476688.3:c.202G>T ENSP00000437025.2:p.Glu68Ter
ENST00000486282.6:n.540G>T
ENST00000486282.7:n.571G>T
ENST00000524975.2:n.480G>T
ENST00000525415.1:n.129G>T
ENST00000525415.2:n.778G>T
ENST00000526301.5:n.721G>T
ENST00000526301.6:n.583G>T
ENST00000527846.5:c.583G>T ENSP00000431904.1:p.Glu195Ter
ENST00000527846.7:n.375G>T
ENST00000528454.5:c.328G>T ENSP00000437164.1:p.Glu110Ter
ENST00000528667.5:c.682G>T ENSP00000436541.1:p.Glu228Ter
ENST00000531203.6:c.328G>T ENSP00000431975.2:p.Glu110Ter
ENST00000531734.6:c.439G>T ENSP00000433739.2:p.Glu147Ter
ENST00000534144.1:n.346G>T
ENST00000652975.2:c.*272G>T ENSP00000499620.2:n.*272G>T
ENST00000654851.1:n.362G>T
ENST00000655992.1:c.328G>T ENSP00000499740.1:p.Glu110Ter
ENST00000659122.2:c.520G>T ENSP00000499621.2:p.Glu174Ter
ENST00000663749.1:c.*272G>T ENSP00000499739.1:n.*272G>T
ENST00000667949.2:c.-81G>T ENSP00000499465.2:n.-81G>T
ENST00000668421.1:c.*461G>T ENSP00000499362.1:n.*461G>T
ENST00000679379.1:c.*272G>T ENSP00000505528.1:n.*272G>T
ENST00000679593.1:c.520G>T ENSP00000505999.1:p.Glu174Ter
ENST00000679880.1:n.778G>T
ENST00000679892.1:c.*272G>T ENSP00000504882.1:n.*272G>T
ENST00000679981.1:c.*272G>T ENSP00000506422.1:n.*272G>T
ENST00000680132.1:c.*272G>T ENSP00000505950.1:n.*272G>T
ENST00000680148.1:c.*272G>T ENSP00000505994.1:n.*272G>T
ENST00000680170.1:n.778G>T
ENST00000680192.1:n.871G>T
ENST00000680519.1:n.740G>T
ENST00000680531.1:c.*272G>T ENSP00000506332.1:n.*272G>T
ENST00000680820.1:c.*272G>T ENSP00000505735.1:n.*272G>T
ENST00000680832.1:c.*272G>T ENSP00000505774.1:n.*272G>T
ENST00000680929.1:c.*272G>T ENSP00000504916.1:n.*272G>T
ENST00000681108.1:c.*272G>T ENSP00000506701.1:n.*272G>T
ENST00000681121.1:c.328G>T ENSP00000506466.1:p.Glu110Ter
ENST00000681132.1:c.*272G>T ENSP00000506195.1:n.*272G>T
ENST00000681181.1:c.*272G>T ENSP00000506038.1:n.*272G>T
ENST00000681218.1:c.*272G>T ENSP00000505976.1:n.*272G>T
ENST00000681246.1:c.*176G>T ENSP00000505534.1:n.*176G>T
ENST00000681496.1:c.*272G>T ENSP00000505948.1:n.*272G>T
ENST00000681834.1:n.597G>T
ENST00000681862.1:c.*272G>T ENSP00000505537.1:n.*272G>T
XM_011541247.1:c.895G>T XP_011539549.1:p.Glu299Ter
XM_011541248.1:c.895G>T XP_011539550.1:p.Glu299Ter
XM_024446431.1:c.457G>T XP_024302199.1:p.Glu153Ter
XM_024446432.1:c.457G>T XP_024302200.1:p.Glu153Ter
XR_002956282.1:n.1093G>T
XR_946607.1:n.918G>T