Canonical Allele Identifier: CA993080
Community Standard Title: NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628433C>T , CM000663.2:g.109628433C>T GRCh38
NC_000001.10:g.110171055C>T , CM000663.1:g.110171055C>T GRCh37
NC_000001.9:g.109972578C>T NCBI36
NG_034075.1:g.13621C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.1345C>T MANE Select NP_001355738.1:p.Arg449Ter
ENST00000528667.7:c.1345C>T MANE Select ENSP00000436541.2:p.Arg449Ter
NM_001257360.1:c.1507C>T NP_001244289.1:p.Arg503Ter
NM_001257360.2:c.1507C>T NP_001244289.1:p.Arg503Ter
NM_001257361.1:c.1153C>T NP_001244290.1:p.Arg385Ter
NM_001257361.2:c.1153C>T NP_001244290.1:p.Arg385Ter
NM_001308170.1:c.1282C>T NP_001295099.1:p.Arg428Ter
NM_004037.7:c.1507C>T NP_004028.3:p.Arg503Ter
NM_004037.9:c.1345C>T NP_004028.4:p.Arg449Ter
NM_139156.3:c.1264C>T NP_631895.1:p.Arg422Ter
NM_139156.4:c.1264C>T NP_631895.1:p.Arg422Ter
NM_203404.1:c.1150C>T NP_981949.1:p.Arg384Ter
ENST00000256578.7:c.1507C>T ENSP00000256578.3:p.Arg503Ter
ENST00000256578.8:c.1345C>T ENSP00000256578.4:p.Arg449Ter
ENST00000342115.8:c.1264C>T ENSP00000345498.4:p.Arg422Ter
ENST00000358729.8:c.1282C>T ENSP00000351573.4:p.Arg428Ter
ENST00000358729.9:c.1345C>T ENSP00000351573.5:p.Arg449Ter
ENST00000369840.6:c.1418C>T
ENST00000369840.7:c.1345C>T ENSP00000358855.3:p.Arg449Ter
ENST00000393688.7:c.1150C>T ENSP00000377292.3:p.Arg384Ter
ENST00000474459.6:n.1964C>T
ENST00000476688.3:c.1027C>T ENSP00000437025.2:p.Arg343Ter
ENST00000486282.7:n.2154C>T
ENST00000524975.2:n.1679C>T
ENST00000525415.2:n.1861C>T
ENST00000526301.5:n.1546C>T
ENST00000526301.6:n.1408C>T
ENST00000527846.7:n.1200C>T
ENST00000528454.5:c.1153C>T ENSP00000437164.1:p.Arg385Ter
ENST00000528667.5:c.1507C>T ENSP00000436541.1:p.Arg503Ter
ENST00000529299.2:n.481C>T
ENST00000531203.6:c.1153C>T ENSP00000431975.2:p.Arg385Ter
ENST00000531734.6:c.1264C>T ENSP00000433739.2:p.Arg422Ter
ENST00000532851.1:n.55C>T
ENST00000652975.2:c.*1097C>T ENSP00000499620.2:n.*1097C>T
ENST00000654851.1:n.1187C>T
ENST00000655992.1:c.1153C>T ENSP00000499740.1:p.Arg385Ter
ENST00000659122.2:c.1345C>T ENSP00000499621.2:p.Arg449Ter
ENST00000663749.1:c.*1092C>T ENSP00000499739.1:n.*1092C>T
ENST00000667949.2:c.745C>T ENSP00000499465.2:p.Arg249Ter
ENST00000668421.1:c.*1286C>T ENSP00000499362.1:n.*1286C>T
ENST00000679379.1:c.*1097C>T ENSP00000505528.1:n.*1097C>T
ENST00000679593.1:c.1345C>T ENSP00000505999.1:p.Arg449Ter
ENST00000679880.1:n.1865C>T
ENST00000679892.1:c.*1113C>T ENSP00000504882.1:n.*1113C>T
ENST00000679981.1:c.*1359C>T ENSP00000506422.1:n.*1359C>T
ENST00000680132.1:c.*1295C>T ENSP00000505950.1:n.*1295C>T
ENST00000680148.1:c.*1097C>T ENSP00000505994.1:n.*1097C>T
ENST00000680170.1:n.2063C>T
ENST00000680192.1:n.2156C>T
ENST00000680519.1:n.1581C>T
ENST00000680531.1:c.*1092C>T ENSP00000506332.1:n.*1092C>T
ENST00000680820.1:c.*1097C>T ENSP00000505735.1:n.*1097C>T
ENST00000680832.1:c.*1445C>T ENSP00000505774.1:n.*1445C>T
ENST00000680929.1:c.*1034C>T ENSP00000504916.1:n.*1034C>T
ENST00000681108.1:c.*1183C>T ENSP00000506701.1:n.*1183C>T
ENST00000681121.1:c.*455C>T ENSP00000506466.1:n.*455C>T
ENST00000681132.1:c.*1111C>T ENSP00000506195.1:n.*1111C>T
ENST00000681181.1:c.*1183C>T ENSP00000506038.1:n.*1183C>T
ENST00000681218.1:c.*1471C>T ENSP00000505976.1:n.*1471C>T
ENST00000681246.1:c.*1001C>T ENSP00000505534.1:n.*1001C>T
ENST00000681496.1:c.*1471C>T ENSP00000505948.1:n.*1471C>T
ENST00000681834.1:n.1684C>T
ENST00000681862.1:c.*1471C>T ENSP00000505537.1:n.*1471C>T
XM_011541247.1:c.1720C>T XP_011539549.1:p.Arg574Ter
XM_011541248.1:c.1720C>T XP_011539550.1:p.Arg574Ter
XM_024446431.1:c.1282C>T XP_024302199.1:p.Arg428Ter
XM_024446432.1:c.1368C>T XP_024302200.1:p.Ser456=
XR_002956282.1:n.1918C>T
XR_946607.1:n.1743C>T