Canonical Allele Identifier: CA341559083
Gene: AMPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628712T>A , CM000663.2:g.109628712T>A GRCh38
NC_000001.10:g.110171334T>A , CM000663.1:g.110171334T>A GRCh37
NC_000001.9:g.109972857T>A NCBI36
NG_034075.1:g.13900T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1477T>A ENSP00000256578.4:p.Ser493Thr
ENST00000358729.9:c.1477T>A ENSP00000351573.5:p.Ser493Thr
ENST00000369840.7:c.1477T>A ENSP00000358855.3:p.Ser493Thr
ENST00000474459.6:n.2096T>A
ENST00000476688.3:c.1159T>A ENSP00000437025.2:p.Ser387Thr
ENST00000486282.7:n.2433T>A
ENST00000524975.2:n.1958T>A
ENST00000525415.2:n.1993T>A
ENST00000526301.6:n.1540T>A
ENST00000527846.7:n.1332T>A
ENST00000528667.7:c.1477T>A MANE Select ENSP00000436541.2:p.Ser493Thr
ENST00000531203.6:c.1285T>A ENSP00000431975.2:p.Ser429Thr
ENST00000531734.6:c.1396T>A ENSP00000433739.2:p.Ser466Thr
ENST00000652975.2:c.*1229T>A ENSP00000499620.2:n.*1229T>A
ENST00000654851.1:n.1319T>A
ENST00000655992.1:c.1285T>A ENSP00000499740.1:p.Ser429Thr
ENST00000659122.2:c.1407+217T>A ENSP00000499621.2:n.1407+217T>A
ENST00000663749.1:c.*1224T>A ENSP00000499739.1:n.*1224T>A
ENST00000667949.2:c.877T>A ENSP00000499465.2:p.Ser293Thr
ENST00000668421.1:c.*1418T>A ENSP00000499362.1:n.*1418T>A
ENST00000679379.1:c.*1229T>A ENSP00000505528.1:n.*1229T>A
ENST00000679593.1:c.1477T>A ENSP00000505999.1:p.Ser493Thr
ENST00000679880.1:n.2013T>A
ENST00000679892.1:c.*1245T>A ENSP00000504882.1:n.*1245T>A
ENST00000679981.1:c.*1491T>A ENSP00000506422.1:n.*1491T>A
ENST00000680132.1:c.*1427T>A ENSP00000505950.1:n.*1427T>A
ENST00000680148.1:c.*1229T>A ENSP00000505994.1:n.*1229T>A
ENST00000680170.1:n.2342T>A
ENST00000680192.1:n.2435T>A
ENST00000680519.1:n.1713T>A
ENST00000680531.1:c.*1224T>A ENSP00000506332.1:n.*1224T>A
ENST00000680820.1:c.*1229T>A ENSP00000505735.1:n.*1229T>A
ENST00000680832.1:c.*1577T>A ENSP00000505774.1:n.*1577T>A
ENST00000680929.1:c.*1166T>A ENSP00000504916.1:n.*1166T>A
ENST00000681108.1:c.*1245+217T>A ENSP00000506701.1:n.*1245+217T>A
ENST00000681121.1:c.*587T>A ENSP00000506466.1:n.*587T>A
ENST00000681132.1:c.*1243T>A ENSP00000506195.1:n.*1243T>A
ENST00000681181.1:c.*1462T>A ENSP00000506038.1:n.*1462T>A
ENST00000681218.1:c.*1750T>A ENSP00000505976.1:n.*1750T>A
ENST00000681246.1:c.*1133T>A ENSP00000505534.1:n.*1133T>A
ENST00000681496.1:c.*1750T>A ENSP00000505948.1:n.*1750T>A
ENST00000681834.1:n.1816T>A
ENST00000681862.1:c.*1603T>A ENSP00000505537.1:n.*1603T>A
ENST00000256578.7:c.1639T>A ENSP00000256578.3:p.Ser547Thr
ENST00000342115.8:c.1396T>A ENSP00000345498.4:p.Ser466Thr
ENST00000358729.8:c.1414T>A ENSP00000351573.4:p.Ser472Thr
ENST00000369840.6:c.1550T>A
ENST00000393688.7:c.1282T>A ENSP00000377292.3:p.Ser428Thr
ENST00000526301.5:n.1678T>A
ENST00000528454.5:c.1285T>A ENSP00000437164.1:p.Ser429Thr
ENST00000528667.5:c.1639T>A ENSP00000436541.1:p.Ser547Thr
ENST00000532851.1:n.187T>A
ENST00000533132.1:n.179T>A
NM_001257360.1:c.1639T>A NP_001244289.1:p.Ser547Thr
NM_001257361.1:c.1285T>A NP_001244290.1:p.Ser429Thr
NM_001308170.1:c.1414T>A NP_001295099.1:p.Ser472Thr
NM_004037.7:c.1639T>A NP_004028.3:p.Ser547Thr
NM_139156.3:c.1396T>A NP_631895.1:p.Ser466Thr
NM_203404.1:c.1282T>A NP_981949.1:p.Ser428Thr
XM_011541247.1:c.1852T>A XP_011539549.1:p.Ser618Thr
XM_011541248.1:c.1782+217T>A XP_011539550.1:n.1782+217T>A
XR_946607.1:n.1875T>A
XM_024446431.1:c.1414T>A XP_024302199.1:p.Ser472Thr
XM_024446432.1:c.1430+217T>A XP_024302200.1:n.1430+217T>A
XR_002956282.1:n.2050T>A
NM_001257360.2:c.1639T>A NP_001244289.1:p.Ser547Thr
NM_001368809.2:c.1477T>A MANE Select NP_001355738.1:p.Ser493Thr
NM_004037.9:c.1477T>A NP_004028.4:p.Ser493Thr
NM_001257361.2:c.1285T>A NP_001244290.1:p.Ser429Thr
NM_139156.4:c.1396T>A NP_631895.1:p.Ser466Thr