Canonical Allele Identifier: CA341559039
Gene: AMPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628689T>C , CM000663.2:g.109628689T>C GRCh38
NC_000001.10:g.110171311T>C , CM000663.1:g.110171311T>C GRCh37
NC_000001.9:g.109972834T>C NCBI36
NG_034075.1:g.13877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1454T>C ENSP00000256578.4:p.Leu485Pro
ENST00000358729.9:c.1454T>C ENSP00000351573.5:p.Leu485Pro
ENST00000369840.7:c.1454T>C ENSP00000358855.3:p.Leu485Pro
ENST00000474459.6:n.2073T>C
ENST00000476688.3:c.1136T>C ENSP00000437025.2:p.Leu379Pro
ENST00000486282.7:n.2410T>C
ENST00000524975.2:n.1935T>C
ENST00000525415.2:n.1970T>C
ENST00000526301.6:n.1517T>C
ENST00000527846.7:n.1309T>C
ENST00000528667.7:c.1454T>C MANE Select ENSP00000436541.2:p.Leu485Pro
ENST00000531203.6:c.1262T>C ENSP00000431975.2:p.Leu421Pro
ENST00000531734.6:c.1373T>C ENSP00000433739.2:p.Leu458Pro
ENST00000652975.2:c.*1206T>C ENSP00000499620.2:n.*1206T>C
ENST00000654851.1:n.1296T>C
ENST00000655992.1:c.1262T>C ENSP00000499740.1:p.Leu421Pro
ENST00000659122.2:c.1407+194T>C ENSP00000499621.2:n.1407+194T>C
ENST00000663749.1:c.*1201T>C ENSP00000499739.1:n.*1201T>C
ENST00000667949.2:c.854T>C ENSP00000499465.2:p.Leu285Pro
ENST00000668421.1:c.*1395T>C ENSP00000499362.1:n.*1395T>C
ENST00000679379.1:c.*1206T>C ENSP00000505528.1:n.*1206T>C
ENST00000679593.1:c.1454T>C ENSP00000505999.1:p.Leu485Pro
ENST00000679880.1:n.1990T>C
ENST00000679892.1:c.*1222T>C ENSP00000504882.1:n.*1222T>C
ENST00000679981.1:c.*1468T>C ENSP00000506422.1:n.*1468T>C
ENST00000680132.1:c.*1404T>C ENSP00000505950.1:n.*1404T>C
ENST00000680148.1:c.*1206T>C ENSP00000505994.1:n.*1206T>C
ENST00000680170.1:n.2319T>C
ENST00000680192.1:n.2412T>C
ENST00000680519.1:n.1690T>C
ENST00000680531.1:c.*1201T>C ENSP00000506332.1:n.*1201T>C
ENST00000680820.1:c.*1206T>C ENSP00000505735.1:n.*1206T>C
ENST00000680832.1:c.*1554T>C ENSP00000505774.1:n.*1554T>C
ENST00000680929.1:c.*1143T>C ENSP00000504916.1:n.*1143T>C
ENST00000681108.1:c.*1245+194T>C ENSP00000506701.1:n.*1245+194T>C
ENST00000681121.1:c.*564T>C ENSP00000506466.1:n.*564T>C
ENST00000681132.1:c.*1220T>C ENSP00000506195.1:n.*1220T>C
ENST00000681181.1:c.*1439T>C ENSP00000506038.1:n.*1439T>C
ENST00000681218.1:c.*1727T>C ENSP00000505976.1:n.*1727T>C
ENST00000681246.1:c.*1110T>C ENSP00000505534.1:n.*1110T>C
ENST00000681496.1:c.*1727T>C ENSP00000505948.1:n.*1727T>C
ENST00000681834.1:n.1793T>C
ENST00000681862.1:c.*1580T>C ENSP00000505537.1:n.*1580T>C
ENST00000256578.7:c.1616T>C ENSP00000256578.3:p.Leu539Pro
ENST00000342115.8:c.1373T>C ENSP00000345498.4:p.Leu458Pro
ENST00000358729.8:c.1391T>C ENSP00000351573.4:p.Leu464Pro
ENST00000369840.6:c.1527T>C
ENST00000393688.7:c.1259T>C ENSP00000377292.3:p.Leu420Pro
ENST00000526301.5:n.1655T>C
ENST00000528454.5:c.1262T>C ENSP00000437164.1:p.Leu421Pro
ENST00000528667.5:c.1616T>C ENSP00000436541.1:p.Leu539Pro
ENST00000532851.1:n.164T>C
ENST00000533132.1:n.156T>C
NM_001257360.1:c.1616T>C NP_001244289.1:p.Leu539Pro
NM_001257361.1:c.1262T>C NP_001244290.1:p.Leu421Pro
NM_001308170.1:c.1391T>C NP_001295099.1:p.Leu464Pro
NM_004037.7:c.1616T>C NP_004028.3:p.Leu539Pro
NM_139156.3:c.1373T>C NP_631895.1:p.Leu458Pro
NM_203404.1:c.1259T>C NP_981949.1:p.Leu420Pro
XM_011541247.1:c.1829T>C XP_011539549.1:p.Leu610Pro
XM_011541248.1:c.1782+194T>C XP_011539550.1:n.1782+194T>C
XR_946607.1:n.1852T>C
XM_024446431.1:c.1391T>C XP_024302199.1:p.Leu464Pro
XM_024446432.1:c.1430+194T>C XP_024302200.1:n.1430+194T>C
XR_002956282.1:n.2027T>C
NM_001257360.2:c.1616T>C NP_001244289.1:p.Leu539Pro
NM_001368809.2:c.1454T>C MANE Select NP_001355738.1:p.Leu485Pro
NM_004037.9:c.1454T>C NP_004028.4:p.Leu485Pro
NM_001257361.2:c.1262T>C NP_001244290.1:p.Leu421Pro
NM_139156.4:c.1373T>C NP_631895.1:p.Leu458Pro