Canonical Allele Identifier: CA341562803
Community Standard Title: NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109630698G>A , CM000663.2:g.109630698G>A GRCh38
NC_000001.10:g.110173320G>A , CM000663.1:g.110173320G>A GRCh37
NC_000001.9:g.109974843G>A NCBI36
NG_034075.1:g.15886G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.2173G>A MANE Select NP_001355738.1:p.Glu725Lys
ENST00000528667.7:c.2173G>A MANE Select ENSP00000436541.2:p.Glu725Lys
NM_001257360.1:c.2335G>A NP_001244289.1:p.Glu779Lys
NM_001257360.2:c.2335G>A NP_001244289.1:p.Glu779Lys
NM_001257361.1:c.1981G>A NP_001244290.1:p.Glu661Lys
NM_001257361.2:c.1981G>A NP_001244290.1:p.Glu661Lys
NM_001308170.1:c.2110G>A NP_001295099.1:p.Glu704Lys
NM_004037.7:c.2335G>A NP_004028.3:p.Glu779Lys
NM_004037.9:c.2173G>A NP_004028.4:p.Glu725Lys
NM_139156.3:c.2092G>A NP_631895.1:p.Glu698Lys
NM_139156.4:c.2092G>A NP_631895.1:p.Glu698Lys
NM_203404.1:c.1978G>A NP_981949.1:p.Glu660Lys
ENST00000256578.7:c.2335G>A ENSP00000256578.3:p.Glu779Lys
ENST00000256578.8:c.2173G>A ENSP00000256578.4:p.Glu725Lys
ENST00000342115.8:c.2092G>A ENSP00000345498.4:p.Glu698Lys
ENST00000358729.8:c.2110G>A ENSP00000351573.4:p.Glu704Lys
ENST00000358729.9:c.2158-245G>A ENSP00000351573.5:n.2158-245G>A
ENST00000369840.6:c.2279G>A
ENST00000369840.7:c.2206G>A ENSP00000358855.3:p.Glu736Lys
ENST00000393688.7:c.1978G>A ENSP00000377292.3:p.Glu660Lys
ENST00000474459.6:n.2792G>A
ENST00000476688.2:c.486-245G>A
ENST00000476688.3:c.1855G>A ENSP00000437025.2:p.Glu619Lys
ENST00000479919.1:n.497G>A
ENST00000486282.7:n.3427G>A
ENST00000524975.2:n.2956G>A
ENST00000525415.2:n.2685G>A
ENST00000526301.6:n.2236G>A
ENST00000527846.7:n.2028G>A
ENST00000528454.5:c.1981G>A ENSP00000437164.1:p.Glu661Lys
ENST00000528667.5:c.2335G>A ENSP00000436541.1:p.Glu779Lys
ENST00000528958.1:n.61G>A
ENST00000531203.6:c.1981G>A ENSP00000431975.2:p.Glu661Lys
ENST00000531734.6:c.2092G>A ENSP00000433739.2:p.Glu698Lys
ENST00000652975.2:c.*1804G>A ENSP00000499620.2:n.*1804G>A
ENST00000654851.1:n.2015G>A
ENST00000659122.2:c.2009G>A ENSP00000499621.2:n.2009G>A
ENST00000663749.1:c.*1799G>A ENSP00000499739.1:n.*1799G>A
ENST00000667949.2:c.1573G>A ENSP00000499465.2:p.Glu525Lys
ENST00000668421.1:c.*2114G>A ENSP00000499362.1:n.*2114G>A
ENST00000679379.1:c.*1925G>A ENSP00000505528.1:n.*1925G>A
ENST00000679593.1:c.*282G>A ENSP00000505999.1:n.*282G>A
ENST00000679880.1:n.2709G>A
ENST00000679892.1:c.*1941G>A ENSP00000504882.1:n.*1941G>A
ENST00000679981.1:c.*2187G>A ENSP00000506422.1:n.*2187G>A
ENST00000680132.1:c.*2123G>A ENSP00000505950.1:n.*2123G>A
ENST00000680148.1:c.*1921G>A ENSP00000505994.1:n.*1921G>A
ENST00000680170.1:n.3038G>A
ENST00000680192.1:n.3433G>A
ENST00000680519.1:n.2409G>A
ENST00000680531.1:c.*1920G>A ENSP00000506332.1:n.*1920G>A
ENST00000680820.1:c.*2227G>A ENSP00000505735.1:n.*2227G>A
ENST00000680832.1:c.*2273G>A ENSP00000505774.1:n.*2273G>A
ENST00000680929.1:c.*1862G>A ENSP00000504916.1:n.*1862G>A
ENST00000681108.1:c.*1847G>A ENSP00000506701.1:n.*1847G>A
ENST00000681121.1:c.*1283G>A ENSP00000506466.1:n.*1283G>A
ENST00000681132.1:c.*1939G>A ENSP00000506195.1:n.*1939G>A
ENST00000681181.1:c.*2460G>A ENSP00000506038.1:n.*2460G>A
ENST00000681218.1:c.*2442G>A ENSP00000505976.1:n.*2442G>A
ENST00000681246.1:c.*1829G>A ENSP00000505534.1:n.*1829G>A
ENST00000681496.1:c.*2446G>A ENSP00000505948.1:n.*2446G>A
ENST00000681834.1:n.2817G>A
ENST00000681862.1:c.*2299G>A ENSP00000505537.1:n.*2299G>A
XM_011541247.1:c.2548G>A XP_011539549.1:p.Glu850Lys
XM_024446431.1:c.2110G>A XP_024302199.1:p.Glu704Lys
XM_024446432.1:c.2032G>A XP_024302200.1:p.Glu678Lys
XR_002956282.1:n.2625G>A
XR_946607.1:n.2450G>A