Canonical Allele Identifier: CA341561829
Community Standard Title: NM_001368809.2(AMPD2):c.1858C>A (p.Arg620Ser)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109629486C>A , CM000663.2:g.109629486C>A GRCh38
NC_000001.10:g.110172108C>A , CM000663.1:g.110172108C>A GRCh37
NC_000001.9:g.109973631C>A NCBI36
NG_034075.1:g.14674C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.1858C>A MANE Select NP_001355738.1:p.Arg620Ser
ENST00000528667.7:c.1858C>A MANE Select ENSP00000436541.2:p.Arg620Ser
NM_001257360.1:c.2020C>A NP_001244289.1:p.Arg674Ser
NM_001257360.2:c.2020C>A NP_001244289.1:p.Arg674Ser
NM_001257361.1:c.1666C>A NP_001244290.1:p.Arg556Ser
NM_001257361.2:c.1666C>A NP_001244290.1:p.Arg556Ser
NM_001308170.1:c.1795C>A NP_001295099.1:p.Arg599Ser
NM_004037.7:c.2020C>A NP_004028.3:p.Arg674Ser
NM_004037.9:c.1858C>A NP_004028.4:p.Arg620Ser
NM_139156.3:c.1777C>A NP_631895.1:p.Arg593Ser
NM_139156.4:c.1777C>A NP_631895.1:p.Arg593Ser
NM_203404.1:c.1663C>A NP_981949.1:p.Arg555Ser
ENST00000256578.7:c.2020C>A ENSP00000256578.3:p.Arg674Ser
ENST00000256578.8:c.1858C>A ENSP00000256578.4:p.Arg620Ser
ENST00000342115.8:c.1777C>A ENSP00000345498.4:p.Arg593Ser
ENST00000358729.8:c.1795C>A ENSP00000351573.4:p.Arg599Ser
ENST00000358729.9:c.1858C>A ENSP00000351573.5:p.Arg620Ser
ENST00000369840.6:c.1931C>A
ENST00000369840.7:c.1858C>A ENSP00000358855.3:p.Arg620Ser
ENST00000393688.7:c.1663C>A ENSP00000377292.3:p.Arg555Ser
ENST00000474459.6:n.2477C>A
ENST00000476688.2:c.186C>A
ENST00000476688.3:c.1540C>A ENSP00000437025.2:p.Arg514Ser
ENST00000479919.1:n.303C>A
ENST00000486282.7:n.3116C>A
ENST00000524975.2:n.2641C>A
ENST00000525415.2:n.2374C>A
ENST00000526301.5:n.2059C>A
ENST00000526301.6:n.1921C>A
ENST00000527846.7:n.1713C>A
ENST00000528454.5:c.1666C>A ENSP00000437164.1:p.Arg556Ser
ENST00000528667.5:c.2020C>A ENSP00000436541.1:p.Arg674Ser
ENST00000531203.6:c.1666C>A ENSP00000431975.2:p.Arg556Ser
ENST00000531734.6:c.1777C>A ENSP00000433739.2:p.Arg593Ser
ENST00000532851.1:n.659C>A
ENST00000533132.1:n.651C>A
ENST00000652975.2:c.*1610C>A ENSP00000499620.2:n.*1610C>A
ENST00000654851.1:n.1700C>A
ENST00000655992.1:c.1666C>A ENSP00000499740.1:p.Arg556Ser
ENST00000659122.2:c.1694C>A ENSP00000499621.2:n.1694C>A
ENST00000663749.1:c.*1605C>A ENSP00000499739.1:n.*1605C>A
ENST00000667949.2:c.1258C>A ENSP00000499465.2:p.Arg420Ser
ENST00000668421.1:c.*1799C>A ENSP00000499362.1:n.*1799C>A
ENST00000679379.1:c.*1610C>A ENSP00000505528.1:n.*1610C>A
ENST00000679593.1:c.1858C>A ENSP00000505999.1:p.Arg620Ser
ENST00000679880.1:n.2394C>A
ENST00000679892.1:c.*1626C>A ENSP00000504882.1:n.*1626C>A
ENST00000679981.1:c.*1872C>A ENSP00000506422.1:n.*1872C>A
ENST00000680132.1:c.*1808C>A ENSP00000505950.1:n.*1808C>A
ENST00000680148.1:c.*1610C>A ENSP00000505994.1:n.*1610C>A
ENST00000680170.1:n.2723C>A
ENST00000680192.1:n.3118C>A
ENST00000680519.1:n.2094C>A
ENST00000680531.1:c.*1605C>A ENSP00000506332.1:n.*1605C>A
ENST00000680820.1:c.*1912C>A ENSP00000505735.1:n.*1912C>A
ENST00000680832.1:c.*1958C>A ENSP00000505774.1:n.*1958C>A
ENST00000680929.1:c.*1547C>A ENSP00000504916.1:n.*1547C>A
ENST00000681108.1:c.*1532C>A ENSP00000506701.1:n.*1532C>A
ENST00000681121.1:c.*968C>A ENSP00000506466.1:n.*968C>A
ENST00000681132.1:c.*1624C>A ENSP00000506195.1:n.*1624C>A
ENST00000681181.1:c.*2145C>A ENSP00000506038.1:n.*2145C>A
ENST00000681218.1:c.*2131C>A ENSP00000505976.1:n.*2131C>A
ENST00000681246.1:c.*1514C>A ENSP00000505534.1:n.*1514C>A
ENST00000681496.1:c.*2131C>A ENSP00000505948.1:n.*2131C>A
ENST00000681834.1:n.2197C>A
ENST00000681862.1:c.*1984C>A ENSP00000505537.1:n.*1984C>A
XM_011541247.1:c.2233C>A XP_011539549.1:p.Arg745Ser
XM_024446431.1:c.1795C>A XP_024302199.1:p.Arg599Ser
XM_024446432.1:c.1717C>A XP_024302200.1:p.Arg573Ser
XR_002956282.1:n.2431C>A
XR_946607.1:n.2256C>A