Canonical Allele Identifier: CA993269
Community Standard Title: NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109630288C>T , CM000663.2:g.109630288C>T GRCh38
NC_000001.10:g.110172910C>T , CM000663.1:g.110172910C>T GRCh37
NC_000001.9:g.109974433C>T NCBI36
NG_034075.1:g.15476C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.2039C>T MANE Select NP_001355738.1:p.Pro680Leu
ENST00000528667.7:c.2039C>T MANE Select ENSP00000436541.2:p.Pro680Leu
NM_001257360.1:c.2201C>T NP_001244289.1:p.Pro734Leu
NM_001257360.2:c.2201C>T NP_001244289.1:p.Pro734Leu
NM_001257361.1:c.1847C>T NP_001244290.1:p.Pro616Leu
NM_001257361.2:c.1847C>T NP_001244290.1:p.Pro616Leu
NM_001308170.1:c.1976C>T NP_001295099.1:p.Pro659Leu
NM_004037.7:c.2201C>T NP_004028.3:p.Pro734Leu
NM_004037.9:c.2039C>T NP_004028.4:p.Pro680Leu
NM_139156.3:c.1958C>T NP_631895.1:p.Pro653Leu
NM_139156.4:c.1958C>T NP_631895.1:p.Pro653Leu
NM_203404.1:c.1844C>T NP_981949.1:p.Pro615Leu
ENST00000256578.7:c.2201C>T ENSP00000256578.3:p.Pro734Leu
ENST00000256578.8:c.2039C>T ENSP00000256578.4:p.Pro680Leu
ENST00000342115.8:c.1958C>T ENSP00000345498.4:p.Pro653Leu
ENST00000358729.8:c.1976C>T ENSP00000351573.4:p.Pro659Leu
ENST00000358729.9:c.2039C>T ENSP00000351573.5:p.Pro680Leu
ENST00000369840.6:c.2112C>T
ENST00000369840.7:c.2039C>T ENSP00000358855.3:p.Pro680Leu
ENST00000393688.7:c.1844C>T ENSP00000377292.3:p.Pro615Leu
ENST00000474459.6:n.2658C>T
ENST00000476688.2:c.367C>T
ENST00000476688.3:c.1721C>T ENSP00000437025.2:p.Pro574Leu
ENST00000479919.1:n.363C>T
ENST00000486282.7:n.3293C>T
ENST00000524975.2:n.2822C>T
ENST00000525415.2:n.2551C>T
ENST00000526301.5:n.2236C>T
ENST00000526301.6:n.2102C>T
ENST00000527846.7:n.1894C>T
ENST00000528454.5:c.1847C>T ENSP00000437164.1:p.Pro616Leu
ENST00000528667.5:c.2201C>T ENSP00000436541.1:p.Pro734Leu
ENST00000531203.6:c.1847C>T ENSP00000431975.2:p.Pro616Leu
ENST00000531734.6:c.1958C>T ENSP00000433739.2:p.Pro653Leu
ENST00000652975.2:c.*1670C>T ENSP00000499620.2:n.*1670C>T
ENST00000654851.1:n.1881C>T
ENST00000655992.1:c.*148C>T ENSP00000499740.1:n.*148C>T
ENST00000659122.2:c.1875C>T ENSP00000499621.2:n.1875C>T
ENST00000663749.1:c.*1665C>T ENSP00000499739.1:n.*1665C>T
ENST00000667949.2:c.1439C>T ENSP00000499465.2:p.Pro480Leu
ENST00000668421.1:c.*1980C>T ENSP00000499362.1:n.*1980C>T
ENST00000679379.1:c.*1791C>T ENSP00000505528.1:n.*1791C>T
ENST00000679593.1:c.*148C>T ENSP00000505999.1:n.*148C>T
ENST00000679880.1:n.2575C>T
ENST00000679892.1:c.*1807C>T ENSP00000504882.1:n.*1807C>T
ENST00000679981.1:c.*2053C>T ENSP00000506422.1:n.*2053C>T
ENST00000680132.1:c.*1989C>T ENSP00000505950.1:n.*1989C>T
ENST00000680148.1:c.*1787C>T ENSP00000505994.1:n.*1787C>T
ENST00000680170.1:n.2904C>T
ENST00000680192.1:n.3299C>T
ENST00000680519.1:n.2275C>T
ENST00000680531.1:c.*1786C>T ENSP00000506332.1:n.*1786C>T
ENST00000680820.1:c.*2093C>T ENSP00000505735.1:n.*2093C>T
ENST00000680832.1:c.*2139C>T ENSP00000505774.1:n.*2139C>T
ENST00000680929.1:c.*1728C>T ENSP00000504916.1:n.*1728C>T
ENST00000681108.1:c.*1713C>T ENSP00000506701.1:n.*1713C>T
ENST00000681121.1:c.*1149C>T ENSP00000506466.1:n.*1149C>T
ENST00000681132.1:c.*1805C>T ENSP00000506195.1:n.*1805C>T
ENST00000681181.1:c.*2326C>T ENSP00000506038.1:n.*2326C>T
ENST00000681218.1:c.*2308C>T ENSP00000505976.1:n.*2308C>T
ENST00000681246.1:c.*1695C>T ENSP00000505534.1:n.*1695C>T
ENST00000681496.1:c.*2312C>T ENSP00000505948.1:n.*2312C>T
ENST00000681834.1:n.2683C>T
ENST00000681862.1:c.*2165C>T ENSP00000505537.1:n.*2165C>T
XM_011541247.1:c.2414C>T XP_011539549.1:p.Pro805Leu
XM_024446431.1:c.1976C>T XP_024302199.1:p.Pro659Leu
XM_024446432.1:c.1898C>T XP_024302200.1:p.Pro633Leu
XR_002956282.1:n.2491C>T
XR_946607.1:n.2316C>T