Canonical Allele Identifier: CA341558933

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171267G>T (hg19) ; chr1:g.109628645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628645G>T , CM000663.2:g.109628645G>T	GRCh38
NC_000001.10:g.110171267G>T , CM000663.1:g.110171267G>T	GRCh37
NC_000001.9:g.109972790G>T	NCBI36
NG_034075.1:g.13833G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1410G>T	ENSP00000256578.4:p.Glu470Asp
ENST00000358729.9:c.1410G>T	ENSP00000351573.5:p.Glu470Asp
ENST00000369840.7:c.1410G>T	ENSP00000358855.3:p.Glu470Asp
ENST00000474459.6:n.2029G>T
ENST00000476688.3:c.1092G>T	ENSP00000437025.2:p.Glu364Asp
ENST00000486282.7:n.2366G>T
ENST00000524975.2:n.1891G>T
ENST00000525415.2:n.1926G>T
ENST00000526301.6:n.1473G>T
ENST00000527846.7:n.1265G>T
ENST00000528667.7:c.1410G>T MANE Select	ENSP00000436541.2:p.Glu470Asp
ENST00000531203.6:c.1218G>T	ENSP00000431975.2:p.Glu406Asp
ENST00000531734.6:c.1329G>T	ENSP00000433739.2:p.Glu443Asp
ENST00000652975.2:c.*1162G>T	ENSP00000499620.2:n.*1162G>T
ENST00000654851.1:n.1252G>T
ENST00000655992.1:c.1218G>T	ENSP00000499740.1:p.Glu406Asp
ENST00000659122.2:c.1407+150G>T	ENSP00000499621.2:n.1407+150G>T
ENST00000663749.1:c.*1157G>T	ENSP00000499739.1:n.*1157G>T
ENST00000667949.2:c.810G>T	ENSP00000499465.2:p.Glu270Asp
ENST00000668421.1:c.*1351G>T	ENSP00000499362.1:n.*1351G>T
ENST00000679379.1:c.*1162G>T	ENSP00000505528.1:n.*1162G>T
ENST00000679593.1:c.1410G>T	ENSP00000505999.1:p.Glu470Asp
ENST00000679880.1:n.1946G>T
ENST00000679892.1:c.*1178G>T	ENSP00000504882.1:n.*1178G>T
ENST00000679981.1:c.*1424G>T	ENSP00000506422.1:n.*1424G>T
ENST00000680132.1:c.*1360G>T	ENSP00000505950.1:n.*1360G>T
ENST00000680148.1:c.*1162G>T	ENSP00000505994.1:n.*1162G>T
ENST00000680170.1:n.2275G>T
ENST00000680192.1:n.2368G>T
ENST00000680519.1:n.1646G>T
ENST00000680531.1:c.*1157G>T	ENSP00000506332.1:n.*1157G>T
ENST00000680820.1:c.*1162G>T	ENSP00000505735.1:n.*1162G>T
ENST00000680832.1:c.*1510G>T	ENSP00000505774.1:n.*1510G>T
ENST00000680929.1:c.*1099G>T	ENSP00000504916.1:n.*1099G>T
ENST00000681108.1:c.*1245+150G>T	ENSP00000506701.1:n.*1245+150G>T
ENST00000681121.1:c.*520G>T	ENSP00000506466.1:n.*520G>T
ENST00000681132.1:c.*1176G>T	ENSP00000506195.1:n.*1176G>T
ENST00000681181.1:c.*1395G>T	ENSP00000506038.1:n.*1395G>T
ENST00000681218.1:c.*1683G>T	ENSP00000505976.1:n.*1683G>T
ENST00000681246.1:c.*1066G>T	ENSP00000505534.1:n.*1066G>T
ENST00000681496.1:c.*1683G>T	ENSP00000505948.1:n.*1683G>T
ENST00000681834.1:n.1749G>T
ENST00000681862.1:c.*1536G>T	ENSP00000505537.1:n.*1536G>T
ENST00000256578.7:c.1572G>T	ENSP00000256578.3:p.Glu524Asp
ENST00000342115.8:c.1329G>T	ENSP00000345498.4:p.Glu443Asp
ENST00000358729.8:c.1347G>T	ENSP00000351573.4:p.Glu449Asp
ENST00000369840.6:c.1483G>T
ENST00000393688.7:c.1215G>T	ENSP00000377292.3:p.Glu405Asp
ENST00000526301.5:n.1611G>T
ENST00000528454.5:c.1218G>T	ENSP00000437164.1:p.Glu406Asp
ENST00000528667.5:c.1572G>T	ENSP00000436541.1:p.Glu524Asp
ENST00000532851.1:n.120G>T
ENST00000533132.1:n.112G>T
NM_001257360.1:c.1572G>T	NP_001244289.1:p.Glu524Asp
NM_001257361.1:c.1218G>T	NP_001244290.1:p.Glu406Asp
NM_001308170.1:c.1347G>T	NP_001295099.1:p.Glu449Asp
NM_004037.7:c.1572G>T	NP_004028.3:p.Glu524Asp
NM_139156.3:c.1329G>T	NP_631895.1:p.Glu443Asp
NM_203404.1:c.1215G>T	NP_981949.1:p.Glu405Asp
XM_011541247.1:c.1785G>T	XP_011539549.1:p.Glu595Asp
XM_011541248.1:c.1782+150G>T	XP_011539550.1:n.1782+150G>T
XR_946607.1:n.1808G>T
XM_024446431.1:c.1347G>T	XP_024302199.1:p.Glu449Asp
XM_024446432.1:c.1430+150G>T	XP_024302200.1:n.1430+150G>T
XR_002956282.1:n.1983G>T
NM_001257360.2:c.1572G>T	NP_001244289.1:p.Glu524Asp
NM_001368809.2:c.1410G>T MANE Select	NP_001355738.1:p.Glu470Asp
NM_004037.9:c.1410G>T	NP_004028.4:p.Glu470Asp
NM_001257361.2:c.1218G>T	NP_001244290.1:p.Glu406Asp
NM_139156.4:c.1329G>T	NP_631895.1:p.Glu443Asp