Canonical Allele Identifier: CA992989
Community Standard Title: NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109627793C>T , CM000663.2:g.109627793C>T GRCh38
NC_000001.10:g.110170415C>T , CM000663.1:g.110170415C>T GRCh37
NC_000001.9:g.109971938C>T NCBI36
NG_034075.1:g.12981C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.970C>T MANE Select NP_001355738.1:p.Arg324Trp
ENST00000528667.7:c.970C>T MANE Select ENSP00000436541.2:p.Arg324Trp
NM_001257360.1:c.1132C>T NP_001244289.1:p.Arg378Trp
NM_001257360.2:c.1132C>T NP_001244289.1:p.Arg378Trp
NM_001257361.1:c.778C>T NP_001244290.1:p.Arg260Trp
NM_001257361.2:c.778C>T NP_001244290.1:p.Arg260Trp
NM_001308170.1:c.907C>T NP_001295099.1:p.Arg303Trp
NM_004037.7:c.1132C>T NP_004028.3:p.Arg378Trp
NM_004037.9:c.970C>T NP_004028.4:p.Arg324Trp
NM_139156.3:c.889C>T NP_631895.1:p.Arg297Trp
NM_139156.4:c.889C>T NP_631895.1:p.Arg297Trp
NM_203404.1:c.775C>T NP_981949.1:p.Arg259Trp
ENST00000256578.7:c.1132C>T ENSP00000256578.3:p.Arg378Trp
ENST00000256578.8:c.970C>T ENSP00000256578.4:p.Arg324Trp
ENST00000342115.8:c.889C>T ENSP00000345498.4:p.Arg297Trp
ENST00000358729.8:c.907C>T ENSP00000351573.4:p.Arg303Trp
ENST00000358729.9:c.970C>T ENSP00000351573.5:p.Arg324Trp
ENST00000369840.6:c.1043C>T
ENST00000369840.7:c.970C>T ENSP00000358855.3:p.Arg324Trp
ENST00000393688.7:c.775C>T ENSP00000377292.3:p.Arg259Trp
ENST00000474459.6:n.1589C>T
ENST00000476688.3:c.652C>T ENSP00000437025.2:p.Arg218Trp
ENST00000486282.7:n.1693C>T
ENST00000524975.1:n.616C>T
ENST00000524975.2:n.1304C>T
ENST00000525415.2:n.1486C>T
ENST00000526301.5:n.1171C>T
ENST00000526301.6:n.1033C>T
ENST00000527846.7:n.825C>T
ENST00000528454.5:c.778C>T ENSP00000437164.1:p.Arg260Trp
ENST00000528667.5:c.1132C>T ENSP00000436541.1:p.Arg378Trp
ENST00000529299.2:n.20C>T
ENST00000531203.6:c.778C>T ENSP00000431975.2:p.Arg260Trp
ENST00000531734.6:c.889C>T ENSP00000433739.2:p.Arg297Trp
ENST00000652975.2:c.*722C>T ENSP00000499620.2:n.*722C>T
ENST00000654851.1:n.812C>T
ENST00000655992.1:c.778C>T ENSP00000499740.1:p.Arg260Trp
ENST00000659122.2:c.970C>T ENSP00000499621.2:p.Arg324Trp
ENST00000663749.1:c.*722C>T ENSP00000499739.1:n.*722C>T
ENST00000667949.2:c.370C>T ENSP00000499465.2:p.Arg124Trp
ENST00000668421.1:c.*911C>T ENSP00000499362.1:n.*911C>T
ENST00000679379.1:c.*722C>T ENSP00000505528.1:n.*722C>T
ENST00000679593.1:c.970C>T ENSP00000505999.1:p.Arg324Trp
ENST00000679880.1:n.1490C>T
ENST00000679892.1:c.*738C>T ENSP00000504882.1:n.*738C>T
ENST00000679981.1:c.*984C>T ENSP00000506422.1:n.*984C>T
ENST00000680132.1:c.*834C>T ENSP00000505950.1:n.*834C>T
ENST00000680148.1:c.*722C>T ENSP00000505994.1:n.*722C>T
ENST00000680170.1:n.1602C>T
ENST00000680192.1:n.1695C>T
ENST00000680519.1:n.1206C>T
ENST00000680531.1:c.*722C>T ENSP00000506332.1:n.*722C>T
ENST00000680820.1:c.*722C>T ENSP00000505735.1:n.*722C>T
ENST00000680832.1:c.*984C>T ENSP00000505774.1:n.*984C>T
ENST00000680929.1:c.*722C>T ENSP00000504916.1:n.*722C>T
ENST00000681108.1:c.*722C>T ENSP00000506701.1:n.*722C>T
ENST00000681121.1:c.*80C>T ENSP00000506466.1:n.*80C>T
ENST00000681132.1:c.*736C>T ENSP00000506195.1:n.*736C>T
ENST00000681181.1:c.*722C>T ENSP00000506038.1:n.*722C>T
ENST00000681218.1:c.*1096C>T ENSP00000505976.1:n.*1096C>T
ENST00000681246.1:c.*626C>T ENSP00000505534.1:n.*626C>T
ENST00000681496.1:c.*1096C>T ENSP00000505948.1:n.*1096C>T
ENST00000681834.1:n.1309C>T
ENST00000681862.1:c.*1096C>T ENSP00000505537.1:n.*1096C>T
XM_011541247.1:c.1345C>T XP_011539549.1:p.Arg449Trp
XM_011541248.1:c.1345C>T XP_011539550.1:p.Arg449Trp
XM_024446431.1:c.907C>T XP_024302199.1:p.Arg303Trp
XM_024446432.1:c.907C>T XP_024302200.1:p.Arg303Trp
XR_002956282.1:n.1543C>T
XR_946607.1:n.1368C>T