Canonical Allele Identifier: CA2840542478
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628642_109628643insACAT , CM000663.2:g.109628642_109628643insACAT GRCh38
NC_000001.10:g.110171264_110171265insACAT , CM000663.1:g.110171264_110171265insACAT GRCh37
NC_000001.9:g.109972787_109972788insACAT NCBI36
NG_034075.1:g.13830_13831insACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1408-1_1408insACAT ENSP00000256578.4:n.1408-1_1408insACAT
ENST00000358729.9:c.1408-1_1408insACAT ENSP00000351573.5:n.1408-1_1408insACAT
ENST00000369840.7:c.1408-1_1408insACAT ENSP00000358855.3:n.1408-1_1408insACAT
ENST00000474459.6:n.2027-1_2027insACAT
ENST00000476688.3:c.1090-1_1090insACAT ENSP00000437025.2:n.1090-1_1090insACAT
ENST00000486282.7:n.2363_2364insACAT
ENST00000524975.2:n.1888_1889insACAT
ENST00000525415.2:n.1924-1_1924insACAT
ENST00000526301.6:n.1471-1_1471insACAT
ENST00000527846.7:n.1263-1_1263insACAT
ENST00000528667.7:c.1408-1_1408insACAT MANE Select ENSP00000436541.2:n.1408-1_1408insACAT
ENST00000531203.6:c.1216-1_1216insACAT ENSP00000431975.2:n.1216-1_1216insACAT
ENST00000531734.6:c.1327-1_1327insACAT ENSP00000433739.2:n.1327-1_1327insACAT
ENST00000652975.2:c.*1160-1_*1160insACAT ENSP00000499620.2:n.*1160-1_*1160insACAT
ENST00000654851.1:n.1250-1_1250insACAT
ENST00000655992.1:c.1216-1_1216insACAT ENSP00000499740.1:n.1216-1_1216insACAT
ENST00000659122.2:c.1407+147_1407+148insACAT ENSP00000499621.2:n.1407+147_1407+148insACAT
ENST00000663749.1:c.*1155-1_*1155insACAT ENSP00000499739.1:n.*1155-1_*1155insACAT
ENST00000667949.2:c.808-1_808insACAT ENSP00000499465.2:n.808-1_808insACAT
ENST00000668421.1:c.*1349-1_*1349insACAT ENSP00000499362.1:n.*1349-1_*1349insACAT
ENST00000679379.1:c.*1160-1_*1160insACAT ENSP00000505528.1:n.*1160-1_*1160insACAT
ENST00000679593.1:c.1408-1_1408insACAT ENSP00000505999.1:n.1408-1_1408insACAT
ENST00000679880.1:n.1943_1944insACAT
ENST00000679892.1:c.*1176-1_*1176insACAT ENSP00000504882.1:n.*1176-1_*1176insACAT
ENST00000679981.1:c.*1422-1_*1422insACAT ENSP00000506422.1:n.*1422-1_*1422insACAT
ENST00000680132.1:c.*1358-1_*1358insACAT ENSP00000505950.1:n.*1358-1_*1358insACAT
ENST00000680148.1:c.*1160-1_*1160insACAT ENSP00000505994.1:n.*1160-1_*1160insACAT
ENST00000680170.1:n.2272_2273insACAT
ENST00000680192.1:n.2365_2366insACAT
ENST00000680519.1:n.1644-1_1644insACAT
ENST00000680531.1:c.*1155-1_*1155insACAT ENSP00000506332.1:n.*1155-1_*1155insACAT
ENST00000680820.1:c.*1160-1_*1160insACAT ENSP00000505735.1:n.*1160-1_*1160insACAT
ENST00000680832.1:c.*1508-1_*1508insACAT ENSP00000505774.1:n.*1508-1_*1508insACAT
ENST00000680929.1:c.*1097-1_*1097insACAT ENSP00000504916.1:n.*1097-1_*1097insACAT
ENST00000681108.1:c.*1245+147_*1245+148insACAT ENSP00000506701.1:n.*1245+147_*1245+148insACAT
ENST00000681121.1:c.*518-1_*518insACAT ENSP00000506466.1:n.*518-1_*518insACAT
ENST00000681132.1:c.*1174-1_*1174insACAT ENSP00000506195.1:n.*1174-1_*1174insACAT
ENST00000681181.1:c.*1392_*1393insACAT ENSP00000506038.1:n.*1392_*1393insACAT
ENST00000681218.1:c.*1680_*1681insACAT ENSP00000505976.1:n.*1680_*1681insACAT
ENST00000681246.1:c.*1064-1_*1064insACAT ENSP00000505534.1:n.*1064-1_*1064insACAT
ENST00000681496.1:c.*1680_*1681insACAT ENSP00000505948.1:n.*1680_*1681insACAT
ENST00000681834.1:n.1747-1_1747insACAT
ENST00000681862.1:c.*1534-1_*1534insACAT ENSP00000505537.1:n.*1534-1_*1534insACAT
ENST00000256578.7:c.1570-1_1570insACAT ENSP00000256578.3:n.1570-1_1570insACAT
ENST00000342115.8:c.1327-1_1327insACAT ENSP00000345498.4:n.1327-1_1327insACAT
ENST00000358729.8:c.1345-1_1345insACAT ENSP00000351573.4:n.1345-1_1345insACAT
ENST00000369840.6:c.1481-1_1481insACAT
ENST00000393688.7:c.1213-1_1213insACAT ENSP00000377292.3:n.1213-1_1213insACAT
ENST00000526301.5:n.1609-1_1609insACAT
ENST00000528454.5:c.1216-1_1216insACAT ENSP00000437164.1:n.1216-1_1216insACAT
ENST00000528667.5:c.1570-1_1570insACAT ENSP00000436541.1:n.1570-1_1570insACAT
ENST00000532851.1:n.118-1_118insACAT
ENST00000533132.1:n.109_110insACAT
NM_001257360.1:c.1570-1_1570insACAT NP_001244289.1:n.1570-1_1570insACAT
NM_001257361.1:c.1216-1_1216insACAT NP_001244290.1:n.1216-1_1216insACAT
NM_001308170.1:c.1345-1_1345insACAT NP_001295099.1:n.1345-1_1345insACAT
NM_004037.7:c.1570-1_1570insACAT NP_004028.3:n.1570-1_1570insACAT
NM_139156.3:c.1327-1_1327insACAT NP_631895.1:n.1327-1_1327insACAT
NM_203404.1:c.1213-1_1213insACAT NP_981949.1:n.1213-1_1213insACAT
XM_011541247.1:c.1783-1_1783insACAT XP_011539549.1:n.1783-1_1783insACAT
XM_011541248.1:c.1782+147_1782+148insACAT XP_011539550.1:n.1782+147_1782+148insACAT
XR_946607.1:n.1806-1_1806insACAT
XM_024446431.1:c.1345-1_1345insACAT XP_024302199.1:n.1345-1_1345insACAT
XM_024446432.1:c.1430+147_1430+148insACAT XP_024302200.1:n.1430+147_1430+148insACAT
XR_002956282.1:n.1981-1_1981insACAT
NM_001257360.2:c.1570-1_1570insACAT NP_001244289.1:n.1570-1_1570insACAT
NM_001368809.2:c.1408-1_1408insACAT MANE Select NP_001355738.1:n.1408-1_1408insACAT
NM_004037.9:c.1408-1_1408insACAT NP_004028.4:n.1408-1_1408insACAT
NM_001257361.2:c.1216-1_1216insACAT NP_001244290.1:n.1216-1_1216insACAT
NM_139156.4:c.1327-1_1327insACAT NP_631895.1:n.1327-1_1327insACAT