Canonical Allele Identifier: CA341559110
Gene: AMPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628724T>A , CM000663.2:g.109628724T>A GRCh38
NC_000001.10:g.110171346T>A , CM000663.1:g.110171346T>A GRCh37
NC_000001.9:g.109972869T>A NCBI36
NG_034075.1:g.13912T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1489T>A ENSP00000256578.4:p.Trp497Arg
ENST00000358729.9:c.1489T>A ENSP00000351573.5:p.Trp497Arg
ENST00000369840.7:c.1489T>A ENSP00000358855.3:p.Trp497Arg
ENST00000474459.6:n.2108T>A
ENST00000476688.3:c.1171T>A ENSP00000437025.2:p.Trp391Arg
ENST00000486282.7:n.2445T>A
ENST00000524975.2:n.1970T>A
ENST00000525415.2:n.2005T>A
ENST00000526301.6:n.1552T>A
ENST00000527846.7:n.1344T>A
ENST00000528667.7:c.1489T>A MANE Select ENSP00000436541.2:p.Trp497Arg
ENST00000531203.6:c.1297T>A ENSP00000431975.2:p.Trp433Arg
ENST00000531734.6:c.1408T>A ENSP00000433739.2:p.Trp470Arg
ENST00000652975.2:c.*1241T>A ENSP00000499620.2:n.*1241T>A
ENST00000654851.1:n.1331T>A
ENST00000655992.1:c.1297T>A ENSP00000499740.1:p.Trp433Arg
ENST00000659122.2:c.1407+229T>A ENSP00000499621.2:n.1407+229T>A
ENST00000663749.1:c.*1236T>A ENSP00000499739.1:n.*1236T>A
ENST00000667949.2:c.889T>A ENSP00000499465.2:p.Trp297Arg
ENST00000668421.1:c.*1430T>A ENSP00000499362.1:n.*1430T>A
ENST00000679379.1:c.*1241T>A ENSP00000505528.1:n.*1241T>A
ENST00000679593.1:c.1489T>A ENSP00000505999.1:p.Trp497Arg
ENST00000679880.1:n.2025T>A
ENST00000679892.1:c.*1257T>A ENSP00000504882.1:n.*1257T>A
ENST00000679981.1:c.*1503T>A ENSP00000506422.1:n.*1503T>A
ENST00000680132.1:c.*1439T>A ENSP00000505950.1:n.*1439T>A
ENST00000680148.1:c.*1241T>A ENSP00000505994.1:n.*1241T>A
ENST00000680170.1:n.2354T>A
ENST00000680192.1:n.2447T>A
ENST00000680519.1:n.1725T>A
ENST00000680531.1:c.*1236T>A ENSP00000506332.1:n.*1236T>A
ENST00000680820.1:c.*1241T>A ENSP00000505735.1:n.*1241T>A
ENST00000680832.1:c.*1589T>A ENSP00000505774.1:n.*1589T>A
ENST00000680929.1:c.*1178T>A ENSP00000504916.1:n.*1178T>A
ENST00000681108.1:c.*1245+229T>A ENSP00000506701.1:n.*1245+229T>A
ENST00000681121.1:c.*599T>A ENSP00000506466.1:n.*599T>A
ENST00000681132.1:c.*1255T>A ENSP00000506195.1:n.*1255T>A
ENST00000681181.1:c.*1474T>A ENSP00000506038.1:n.*1474T>A
ENST00000681218.1:c.*1762T>A ENSP00000505976.1:n.*1762T>A
ENST00000681246.1:c.*1145T>A ENSP00000505534.1:n.*1145T>A
ENST00000681496.1:c.*1762T>A ENSP00000505948.1:n.*1762T>A
ENST00000681834.1:n.1828T>A
ENST00000681862.1:c.*1615T>A ENSP00000505537.1:n.*1615T>A
ENST00000256578.7:c.1651T>A ENSP00000256578.3:p.Trp551Arg
ENST00000342115.8:c.1408T>A ENSP00000345498.4:p.Trp470Arg
ENST00000358729.8:c.1426T>A ENSP00000351573.4:p.Trp476Arg
ENST00000369840.6:c.1562T>A
ENST00000393688.7:c.1294T>A ENSP00000377292.3:p.Trp432Arg
ENST00000467071.1:n.11T>A
ENST00000526301.5:n.1690T>A
ENST00000528454.5:c.1297T>A ENSP00000437164.1:p.Trp433Arg
ENST00000528667.5:c.1651T>A ENSP00000436541.1:p.Trp551Arg
ENST00000532851.1:n.199T>A
ENST00000533132.1:n.191T>A
NM_001257360.1:c.1651T>A NP_001244289.1:p.Trp551Arg
NM_001257361.1:c.1297T>A NP_001244290.1:p.Trp433Arg
NM_001308170.1:c.1426T>A NP_001295099.1:p.Trp476Arg
NM_004037.7:c.1651T>A NP_004028.3:p.Trp551Arg
NM_139156.3:c.1408T>A NP_631895.1:p.Trp470Arg
NM_203404.1:c.1294T>A NP_981949.1:p.Trp432Arg
XM_011541247.1:c.1864T>A XP_011539549.1:p.Trp622Arg
XM_011541248.1:c.1782+229T>A XP_011539550.1:n.1782+229T>A
XR_946607.1:n.1887T>A
XM_024446431.1:c.1426T>A XP_024302199.1:p.Trp476Arg
XM_024446432.1:c.1430+229T>A XP_024302200.1:n.1430+229T>A
XR_002956282.1:n.2062T>A
NM_001257360.2:c.1651T>A NP_001244289.1:p.Trp551Arg
NM_001368809.2:c.1489T>A MANE Select NP_001355738.1:p.Trp497Arg
NM_004037.9:c.1489T>A NP_004028.4:p.Trp497Arg
NM_001257361.2:c.1297T>A NP_001244290.1:p.Trp433Arg
NM_139156.4:c.1408T>A NP_631895.1:p.Trp470Arg