Canonical Allele Identifier: CA341558979
Gene: AMPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628665A>G , CM000663.2:g.109628665A>G GRCh38
NC_000001.10:g.110171287A>G , CM000663.1:g.110171287A>G GRCh37
NC_000001.9:g.109972810A>G NCBI36
NG_034075.1:g.13853A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1430A>G ENSP00000256578.4:p.Glu477Gly
ENST00000358729.9:c.1430A>G ENSP00000351573.5:p.Glu477Gly
ENST00000369840.7:c.1430A>G ENSP00000358855.3:p.Glu477Gly
ENST00000474459.6:n.2049A>G
ENST00000476688.3:c.1112A>G ENSP00000437025.2:p.Glu371Gly
ENST00000486282.7:n.2386A>G
ENST00000524975.2:n.1911A>G
ENST00000525415.2:n.1946A>G
ENST00000526301.6:n.1493A>G
ENST00000527846.7:n.1285A>G
ENST00000528667.7:c.1430A>G MANE Select ENSP00000436541.2:p.Glu477Gly
ENST00000531203.6:c.1238A>G ENSP00000431975.2:p.Glu413Gly
ENST00000531734.6:c.1349A>G ENSP00000433739.2:p.Glu450Gly
ENST00000652975.2:c.*1182A>G ENSP00000499620.2:n.*1182A>G
ENST00000654851.1:n.1272A>G
ENST00000655992.1:c.1238A>G ENSP00000499740.1:p.Glu413Gly
ENST00000659122.2:c.1407+170A>G ENSP00000499621.2:n.1407+170A>G
ENST00000663749.1:c.*1177A>G ENSP00000499739.1:n.*1177A>G
ENST00000667949.2:c.830A>G ENSP00000499465.2:p.Glu277Gly
ENST00000668421.1:c.*1371A>G ENSP00000499362.1:n.*1371A>G
ENST00000679379.1:c.*1182A>G ENSP00000505528.1:n.*1182A>G
ENST00000679593.1:c.1430A>G ENSP00000505999.1:p.Glu477Gly
ENST00000679880.1:n.1966A>G
ENST00000679892.1:c.*1198A>G ENSP00000504882.1:n.*1198A>G
ENST00000679981.1:c.*1444A>G ENSP00000506422.1:n.*1444A>G
ENST00000680132.1:c.*1380A>G ENSP00000505950.1:n.*1380A>G
ENST00000680148.1:c.*1182A>G ENSP00000505994.1:n.*1182A>G
ENST00000680170.1:n.2295A>G
ENST00000680192.1:n.2388A>G
ENST00000680519.1:n.1666A>G
ENST00000680531.1:c.*1177A>G ENSP00000506332.1:n.*1177A>G
ENST00000680820.1:c.*1182A>G ENSP00000505735.1:n.*1182A>G
ENST00000680832.1:c.*1530A>G ENSP00000505774.1:n.*1530A>G
ENST00000680929.1:c.*1119A>G ENSP00000504916.1:n.*1119A>G
ENST00000681108.1:c.*1245+170A>G ENSP00000506701.1:n.*1245+170A>G
ENST00000681121.1:c.*540A>G ENSP00000506466.1:n.*540A>G
ENST00000681132.1:c.*1196A>G ENSP00000506195.1:n.*1196A>G
ENST00000681181.1:c.*1415A>G ENSP00000506038.1:n.*1415A>G
ENST00000681218.1:c.*1703A>G ENSP00000505976.1:n.*1703A>G
ENST00000681246.1:c.*1086A>G ENSP00000505534.1:n.*1086A>G
ENST00000681496.1:c.*1703A>G ENSP00000505948.1:n.*1703A>G
ENST00000681834.1:n.1769A>G
ENST00000681862.1:c.*1556A>G ENSP00000505537.1:n.*1556A>G
ENST00000256578.7:c.1592A>G ENSP00000256578.3:p.Glu531Gly
ENST00000342115.8:c.1349A>G ENSP00000345498.4:p.Glu450Gly
ENST00000358729.8:c.1367A>G ENSP00000351573.4:p.Glu456Gly
ENST00000369840.6:c.1503A>G
ENST00000393688.7:c.1235A>G ENSP00000377292.3:p.Glu412Gly
ENST00000526301.5:n.1631A>G
ENST00000528454.5:c.1238A>G ENSP00000437164.1:p.Glu413Gly
ENST00000528667.5:c.1592A>G ENSP00000436541.1:p.Glu531Gly
ENST00000532851.1:n.140A>G
ENST00000533132.1:n.132A>G
NM_001257360.1:c.1592A>G NP_001244289.1:p.Glu531Gly
NM_001257361.1:c.1238A>G NP_001244290.1:p.Glu413Gly
NM_001308170.1:c.1367A>G NP_001295099.1:p.Glu456Gly
NM_004037.7:c.1592A>G NP_004028.3:p.Glu531Gly
NM_139156.3:c.1349A>G NP_631895.1:p.Glu450Gly
NM_203404.1:c.1235A>G NP_981949.1:p.Glu412Gly
XM_011541247.1:c.1805A>G XP_011539549.1:p.Glu602Gly
XM_011541248.1:c.1782+170A>G XP_011539550.1:n.1782+170A>G
XR_946607.1:n.1828A>G
XM_024446431.1:c.1367A>G XP_024302199.1:p.Glu456Gly
XM_024446432.1:c.1430+170A>G XP_024302200.1:n.1430+170A>G
XR_002956282.1:n.2003A>G
NM_001257360.2:c.1592A>G NP_001244289.1:p.Glu531Gly
NM_001368809.2:c.1430A>G MANE Select NP_001355738.1:p.Glu477Gly
NM_004037.9:c.1430A>G NP_004028.4:p.Glu477Gly
NM_001257361.2:c.1238A>G NP_001244290.1:p.Glu413Gly
NM_139156.4:c.1349A>G NP_631895.1:p.Glu450Gly