Canonical Allele Identifier: CA993219
Community Standard Title: NM_001368809.2(AMPD2):c.1881G>A (p.Thr627=)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109629814G>A , CM000663.2:g.109629814G>A GRCh38
NC_000001.10:g.110172436G>A , CM000663.1:g.110172436G>A GRCh37
NC_000001.9:g.109973959G>A NCBI36
NG_034075.1:g.15002G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.1881G>A MANE Select NP_001355738.1:p.Thr627=
ENST00000528667.7:c.1881G>A MANE Select ENSP00000436541.2:p.Thr627=
NM_001257360.1:c.2043G>A NP_001244289.1:p.Thr681=
NM_001257360.2:c.2043G>A NP_001244289.1:p.Thr681=
NM_001257361.1:c.1689G>A NP_001244290.1:p.Thr563=
NM_001257361.2:c.1689G>A NP_001244290.1:p.Thr563=
NM_001308170.1:c.1818G>A NP_001295099.1:p.Thr606=
NM_004037.7:c.2043G>A NP_004028.3:p.Thr681=
NM_004037.9:c.1881G>A NP_004028.4:p.Thr627=
NM_139156.3:c.1800G>A NP_631895.1:p.Thr600=
NM_139156.4:c.1800G>A NP_631895.1:p.Thr600=
NM_203404.1:c.1686G>A NP_981949.1:p.Thr562=
ENST00000256578.7:c.2043G>A ENSP00000256578.3:p.Thr681=
ENST00000256578.8:c.1881G>A ENSP00000256578.4:p.Thr627=
ENST00000342115.8:c.1800G>A ENSP00000345498.4:p.Thr600=
ENST00000358729.8:c.1818G>A ENSP00000351573.4:p.Thr606=
ENST00000358729.9:c.1881G>A ENSP00000351573.5:p.Thr627=
ENST00000369840.6:c.1954G>A
ENST00000369840.7:c.1881G>A ENSP00000358855.3:p.Thr627=
ENST00000393688.7:c.1686G>A ENSP00000377292.3:p.Thr562=
ENST00000474459.6:n.2500G>A
ENST00000476688.2:c.209G>A
ENST00000476688.3:c.1563G>A ENSP00000437025.2:p.Thr521=
ENST00000479919.1:n.307+324G>A
ENST00000486282.7:n.3135G>A
ENST00000524975.2:n.2664G>A
ENST00000525415.2:n.2393G>A
ENST00000526301.5:n.2078G>A
ENST00000526301.6:n.1944G>A
ENST00000527846.7:n.1736G>A
ENST00000528454.5:c.1689G>A ENSP00000437164.1:p.Thr563=
ENST00000528667.5:c.2043G>A ENSP00000436541.1:p.Thr681=
ENST00000531203.6:c.1689G>A ENSP00000431975.2:p.Thr563=
ENST00000531734.6:c.1800G>A ENSP00000433739.2:p.Thr600=
ENST00000652975.2:c.*1614+324G>A ENSP00000499620.2:n.*1614+324G>A
ENST00000654851.1:n.1723G>A
ENST00000655992.1:c.1685G>A ENSP00000499740.1:p.Arg562His
ENST00000659122.2:c.1717G>A ENSP00000499621.2:n.1717G>A
ENST00000663749.1:c.*1609+324G>A ENSP00000499739.1:n.*1609+324G>A
ENST00000667949.2:c.1281G>A ENSP00000499465.2:p.Thr427=
ENST00000668421.1:c.*1822G>A ENSP00000499362.1:n.*1822G>A
ENST00000679379.1:c.*1633G>A ENSP00000505528.1:n.*1633G>A
ENST00000679593.1:c.1877G>A ENSP00000505999.1:p.Arg626His
ENST00000679880.1:n.2417G>A
ENST00000679892.1:c.*1649G>A ENSP00000504882.1:n.*1649G>A
ENST00000679981.1:c.*1895G>A ENSP00000506422.1:n.*1895G>A
ENST00000680132.1:c.*1831G>A ENSP00000505950.1:n.*1831G>A
ENST00000680148.1:c.*1629G>A ENSP00000505994.1:n.*1629G>A
ENST00000680170.1:n.2746G>A
ENST00000680192.1:n.3141G>A
ENST00000680519.1:n.2117G>A
ENST00000680531.1:c.*1628G>A ENSP00000506332.1:n.*1628G>A
ENST00000680820.1:c.*1935G>A ENSP00000505735.1:n.*1935G>A
ENST00000680832.1:c.*1981G>A ENSP00000505774.1:n.*1981G>A
ENST00000680929.1:c.*1570G>A ENSP00000504916.1:n.*1570G>A
ENST00000681108.1:c.*1555G>A ENSP00000506701.1:n.*1555G>A
ENST00000681121.1:c.*991G>A ENSP00000506466.1:n.*991G>A
ENST00000681132.1:c.*1647G>A ENSP00000506195.1:n.*1647G>A
ENST00000681181.1:c.*2168G>A ENSP00000506038.1:n.*2168G>A
ENST00000681218.1:c.*2150G>A ENSP00000505976.1:n.*2150G>A
ENST00000681246.1:c.*1537G>A ENSP00000505534.1:n.*1537G>A
ENST00000681496.1:c.*2154G>A ENSP00000505948.1:n.*2154G>A
ENST00000681834.1:n.2525G>A
ENST00000681862.1:c.*2007G>A ENSP00000505537.1:n.*2007G>A
XM_011541247.1:c.2256G>A XP_011539549.1:p.Thr752=
XM_024446431.1:c.1818G>A XP_024302199.1:p.Thr606=
XM_024446432.1:c.1740G>A XP_024302200.1:p.Thr580=
XR_002956282.1:n.2435+324G>A
XR_946607.1:n.2260+324G>A