Canonical Allele Identifier: CA419684936
Gene: AMPD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.110171333C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109628711C>A , CM000663.2:g.109628711C>A GRCh38
NC_000001.10:g.110171333C>A , CM000663.1:g.110171333C>A GRCh37
NC_000001.9:g.109972856C>A NCBI36
NG_034075.1:g.13899C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256578.8:c.1476C>A ENSP00000256578.4:p.Arg492=
ENST00000358729.9:c.1476C>A ENSP00000351573.5:p.Arg492=
ENST00000369840.7:c.1476C>A ENSP00000358855.3:p.Arg492=
ENST00000474459.6:n.2095C>A
ENST00000476688.3:c.1158C>A ENSP00000437025.2:p.Arg386=
ENST00000486282.7:n.2432C>A
ENST00000524975.2:n.1957C>A
ENST00000525415.2:n.1992C>A
ENST00000526301.6:n.1539C>A
ENST00000527846.7:n.1331C>A
ENST00000528667.7:c.1476C>A MANE Select ENSP00000436541.2:p.Arg492=
ENST00000531203.6:c.1284C>A ENSP00000431975.2:p.Arg428=
ENST00000531734.6:c.1395C>A ENSP00000433739.2:p.Arg465=
ENST00000652975.2:c.*1228C>A ENSP00000499620.2:n.*1228C>A
ENST00000654851.1:n.1318C>A
ENST00000655992.1:c.1284C>A ENSP00000499740.1:p.Arg428=
ENST00000659122.2:c.1407+216C>A ENSP00000499621.2:n.1407+216C>A
ENST00000663749.1:c.*1223C>A ENSP00000499739.1:n.*1223C>A
ENST00000667949.2:c.876C>A ENSP00000499465.2:p.Arg292=
ENST00000668421.1:c.*1417C>A ENSP00000499362.1:n.*1417C>A
ENST00000679379.1:c.*1228C>A ENSP00000505528.1:n.*1228C>A
ENST00000679593.1:c.1476C>A ENSP00000505999.1:p.Arg492=
ENST00000679880.1:n.2012C>A
ENST00000679892.1:c.*1244C>A ENSP00000504882.1:n.*1244C>A
ENST00000679981.1:c.*1490C>A ENSP00000506422.1:n.*1490C>A
ENST00000680132.1:c.*1426C>A ENSP00000505950.1:n.*1426C>A
ENST00000680148.1:c.*1228C>A ENSP00000505994.1:n.*1228C>A
ENST00000680170.1:n.2341C>A
ENST00000680192.1:n.2434C>A
ENST00000680519.1:n.1712C>A
ENST00000680531.1:c.*1223C>A ENSP00000506332.1:n.*1223C>A
ENST00000680820.1:c.*1228C>A ENSP00000505735.1:n.*1228C>A
ENST00000680832.1:c.*1576C>A ENSP00000505774.1:n.*1576C>A
ENST00000680929.1:c.*1165C>A ENSP00000504916.1:n.*1165C>A
ENST00000681108.1:c.*1245+216C>A ENSP00000506701.1:n.*1245+216C>A
ENST00000681121.1:c.*586C>A ENSP00000506466.1:n.*586C>A
ENST00000681132.1:c.*1242C>A ENSP00000506195.1:n.*1242C>A
ENST00000681181.1:c.*1461C>A ENSP00000506038.1:n.*1461C>A
ENST00000681218.1:c.*1749C>A ENSP00000505976.1:n.*1749C>A
ENST00000681246.1:c.*1132C>A ENSP00000505534.1:n.*1132C>A
ENST00000681496.1:c.*1749C>A ENSP00000505948.1:n.*1749C>A
ENST00000681834.1:n.1815C>A
ENST00000681862.1:c.*1602C>A ENSP00000505537.1:n.*1602C>A
ENST00000256578.7:c.1638C>A ENSP00000256578.3:p.Arg546=
ENST00000342115.8:c.1395C>A ENSP00000345498.4:p.Arg465=
ENST00000358729.8:c.1413C>A ENSP00000351573.4:p.Arg471=
ENST00000369840.6:c.1549C>A
ENST00000393688.7:c.1281C>A ENSP00000377292.3:p.Arg427=
ENST00000526301.5:n.1677C>A
ENST00000528454.5:c.1284C>A ENSP00000437164.1:p.Arg428=
ENST00000528667.5:c.1638C>A ENSP00000436541.1:p.Arg546=
ENST00000532851.1:n.186C>A
ENST00000533132.1:n.178C>A
NM_001257360.1:c.1638C>A NP_001244289.1:p.Arg546=
NM_001257361.1:c.1284C>A NP_001244290.1:p.Arg428=
NM_001308170.1:c.1413C>A NP_001295099.1:p.Arg471=
NM_004037.7:c.1638C>A NP_004028.3:p.Arg546=
NM_139156.3:c.1395C>A NP_631895.1:p.Arg465=
NM_203404.1:c.1281C>A NP_981949.1:p.Arg427=
XM_011541247.1:c.1851C>A XP_011539549.1:p.Arg617=
XM_011541248.1:c.1782+216C>A XP_011539550.1:n.1782+216C>A
XR_946607.1:n.1874C>A
XM_024446431.1:c.1413C>A XP_024302199.1:p.Arg471=
XM_024446432.1:c.1430+216C>A XP_024302200.1:n.1430+216C>A
XR_002956282.1:n.2049C>A
NM_001257360.2:c.1638C>A NP_001244289.1:p.Arg546=
NM_001368809.2:c.1476C>A MANE Select NP_001355738.1:p.Arg492=
NM_004037.9:c.1476C>A NP_004028.4:p.Arg492=
NM_001257361.2:c.1284C>A NP_001244290.1:p.Arg428=
NM_139156.4:c.1395C>A NP_631895.1:p.Arg465=