Canonical Allele Identifier: CA341559044
Gene: AMPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628692G>C , CM000663.2:g.109628692G>C GRCh38
NC_000001.10:g.110171314G>C , CM000663.1:g.110171314G>C GRCh37
NC_000001.9:g.109972837G>C NCBI36
NG_034075.1:g.13880G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1457G>C ENSP00000256578.4:p.Arg486Pro
ENST00000358729.9:c.1457G>C ENSP00000351573.5:p.Arg486Pro
ENST00000369840.7:c.1457G>C ENSP00000358855.3:p.Arg486Pro
ENST00000474459.6:n.2076G>C
ENST00000476688.3:c.1139G>C ENSP00000437025.2:p.Arg380Pro
ENST00000486282.7:n.2413G>C
ENST00000524975.2:n.1938G>C
ENST00000525415.2:n.1973G>C
ENST00000526301.6:n.1520G>C
ENST00000527846.7:n.1312G>C
ENST00000528667.7:c.1457G>C MANE Select ENSP00000436541.2:p.Arg486Pro
ENST00000531203.6:c.1265G>C ENSP00000431975.2:p.Arg422Pro
ENST00000531734.6:c.1376G>C ENSP00000433739.2:p.Arg459Pro
ENST00000652975.2:c.*1209G>C ENSP00000499620.2:n.*1209G>C
ENST00000654851.1:n.1299G>C
ENST00000655992.1:c.1265G>C ENSP00000499740.1:p.Arg422Pro
ENST00000659122.2:c.1407+197G>C ENSP00000499621.2:n.1407+197G>C
ENST00000663749.1:c.*1204G>C ENSP00000499739.1:n.*1204G>C
ENST00000667949.2:c.857G>C ENSP00000499465.2:p.Arg286Pro
ENST00000668421.1:c.*1398G>C ENSP00000499362.1:n.*1398G>C
ENST00000679379.1:c.*1209G>C ENSP00000505528.1:n.*1209G>C
ENST00000679593.1:c.1457G>C ENSP00000505999.1:p.Arg486Pro
ENST00000679880.1:n.1993G>C
ENST00000679892.1:c.*1225G>C ENSP00000504882.1:n.*1225G>C
ENST00000679981.1:c.*1471G>C ENSP00000506422.1:n.*1471G>C
ENST00000680132.1:c.*1407G>C ENSP00000505950.1:n.*1407G>C
ENST00000680148.1:c.*1209G>C ENSP00000505994.1:n.*1209G>C
ENST00000680170.1:n.2322G>C
ENST00000680192.1:n.2415G>C
ENST00000680519.1:n.1693G>C
ENST00000680531.1:c.*1204G>C ENSP00000506332.1:n.*1204G>C
ENST00000680820.1:c.*1209G>C ENSP00000505735.1:n.*1209G>C
ENST00000680832.1:c.*1557G>C ENSP00000505774.1:n.*1557G>C
ENST00000680929.1:c.*1146G>C ENSP00000504916.1:n.*1146G>C
ENST00000681108.1:c.*1245+197G>C ENSP00000506701.1:n.*1245+197G>C
ENST00000681121.1:c.*567G>C ENSP00000506466.1:n.*567G>C
ENST00000681132.1:c.*1223G>C ENSP00000506195.1:n.*1223G>C
ENST00000681181.1:c.*1442G>C ENSP00000506038.1:n.*1442G>C
ENST00000681218.1:c.*1730G>C ENSP00000505976.1:n.*1730G>C
ENST00000681246.1:c.*1113G>C ENSP00000505534.1:n.*1113G>C
ENST00000681496.1:c.*1730G>C ENSP00000505948.1:n.*1730G>C
ENST00000681834.1:n.1796G>C
ENST00000681862.1:c.*1583G>C ENSP00000505537.1:n.*1583G>C
ENST00000256578.7:c.1619G>C ENSP00000256578.3:p.Arg540Pro
ENST00000342115.8:c.1376G>C ENSP00000345498.4:p.Arg459Pro
ENST00000358729.8:c.1394G>C ENSP00000351573.4:p.Arg465Pro
ENST00000369840.6:c.1530G>C
ENST00000393688.7:c.1262G>C ENSP00000377292.3:p.Arg421Pro
ENST00000526301.5:n.1658G>C
ENST00000528454.5:c.1265G>C ENSP00000437164.1:p.Arg422Pro
ENST00000528667.5:c.1619G>C ENSP00000436541.1:p.Arg540Pro
ENST00000532851.1:n.167G>C
ENST00000533132.1:n.159G>C
NM_001257360.1:c.1619G>C NP_001244289.1:p.Arg540Pro
NM_001257361.1:c.1265G>C NP_001244290.1:p.Arg422Pro
NM_001308170.1:c.1394G>C NP_001295099.1:p.Arg465Pro
NM_004037.7:c.1619G>C NP_004028.3:p.Arg540Pro
NM_139156.3:c.1376G>C NP_631895.1:p.Arg459Pro
NM_203404.1:c.1262G>C NP_981949.1:p.Arg421Pro
XM_011541247.1:c.1832G>C XP_011539549.1:p.Arg611Pro
XM_011541248.1:c.1782+197G>C XP_011539550.1:n.1782+197G>C
XR_946607.1:n.1855G>C
XM_024446431.1:c.1394G>C XP_024302199.1:p.Arg465Pro
XM_024446432.1:c.1430+197G>C XP_024302200.1:n.1430+197G>C
XR_002956282.1:n.2030G>C
NM_001257360.2:c.1619G>C NP_001244289.1:p.Arg540Pro
NM_001368809.2:c.1457G>C MANE Select NP_001355738.1:p.Arg486Pro
NM_004037.9:c.1457G>C NP_004028.4:p.Arg486Pro
NM_001257361.2:c.1265G>C NP_001244290.1:p.Arg422Pro
NM_139156.4:c.1376G>C NP_631895.1:p.Arg459Pro