Canonical Allele Identifier: CA341562445
Community Standard Title: NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109630266C>G , CM000663.2:g.109630266C>G GRCh38
NC_000001.10:g.110172888C>G , CM000663.1:g.110172888C>G GRCh37
NC_000001.9:g.109974411C>G NCBI36
NG_034075.1:g.15454C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.2017C>G MANE Select NP_001355738.1:p.Gln673Glu
ENST00000528667.7:c.2017C>G MANE Select ENSP00000436541.2:p.Gln673Glu
NM_001257360.1:c.2179C>G NP_001244289.1:p.Gln727Glu
NM_001257360.2:c.2179C>G NP_001244289.1:p.Gln727Glu
NM_001257361.1:c.1825C>G NP_001244290.1:p.Gln609Glu
NM_001257361.2:c.1825C>G NP_001244290.1:p.Gln609Glu
NM_001308170.1:c.1954C>G NP_001295099.1:p.Gln652Glu
NM_004037.7:c.2179C>G NP_004028.3:p.Gln727Glu
NM_004037.9:c.2017C>G NP_004028.4:p.Gln673Glu
NM_139156.3:c.1936C>G NP_631895.1:p.Gln646Glu
NM_139156.4:c.1936C>G NP_631895.1:p.Gln646Glu
NM_203404.1:c.1822C>G NP_981949.1:p.Gln608Glu
ENST00000256578.7:c.2179C>G ENSP00000256578.3:p.Gln727Glu
ENST00000256578.8:c.2017C>G ENSP00000256578.4:p.Gln673Glu
ENST00000342115.8:c.1936C>G ENSP00000345498.4:p.Gln646Glu
ENST00000358729.8:c.1954C>G ENSP00000351573.4:p.Gln652Glu
ENST00000358729.9:c.2017C>G ENSP00000351573.5:p.Gln673Glu
ENST00000369840.6:c.2090C>G
ENST00000369840.7:c.2017C>G ENSP00000358855.3:p.Gln673Glu
ENST00000393688.7:c.1822C>G ENSP00000377292.3:p.Gln608Glu
ENST00000474459.6:n.2636C>G
ENST00000476688.2:c.345C>G
ENST00000476688.3:c.1699C>G ENSP00000437025.2:p.Gln567Glu
ENST00000479919.1:n.341C>G
ENST00000486282.7:n.3271C>G
ENST00000524975.2:n.2800C>G
ENST00000525415.2:n.2529C>G
ENST00000526301.5:n.2214C>G
ENST00000526301.6:n.2080C>G
ENST00000527846.7:n.1872C>G
ENST00000528454.5:c.1825C>G ENSP00000437164.1:p.Gln609Glu
ENST00000528667.5:c.2179C>G ENSP00000436541.1:p.Gln727Glu
ENST00000531203.6:c.1825C>G ENSP00000431975.2:p.Gln609Glu
ENST00000531734.6:c.1936C>G ENSP00000433739.2:p.Gln646Glu
ENST00000652975.2:c.*1648C>G ENSP00000499620.2:n.*1648C>G
ENST00000654851.1:n.1859C>G
ENST00000655992.1:c.*126C>G ENSP00000499740.1:n.*126C>G
ENST00000659122.2:c.1853C>G ENSP00000499621.2:n.1853C>G
ENST00000663749.1:c.*1643C>G ENSP00000499739.1:n.*1643C>G
ENST00000667949.2:c.1417C>G ENSP00000499465.2:p.Gln473Glu
ENST00000668421.1:c.*1958C>G ENSP00000499362.1:n.*1958C>G
ENST00000679379.1:c.*1769C>G ENSP00000505528.1:n.*1769C>G
ENST00000679593.1:c.*126C>G ENSP00000505999.1:n.*126C>G
ENST00000679880.1:n.2553C>G
ENST00000679892.1:c.*1785C>G ENSP00000504882.1:n.*1785C>G
ENST00000679981.1:c.*2031C>G ENSP00000506422.1:n.*2031C>G
ENST00000680132.1:c.*1967C>G ENSP00000505950.1:n.*1967C>G
ENST00000680148.1:c.*1765C>G ENSP00000505994.1:n.*1765C>G
ENST00000680170.1:n.2882C>G
ENST00000680192.1:n.3277C>G
ENST00000680519.1:n.2253C>G
ENST00000680531.1:c.*1764C>G ENSP00000506332.1:n.*1764C>G
ENST00000680820.1:c.*2071C>G ENSP00000505735.1:n.*2071C>G
ENST00000680832.1:c.*2117C>G ENSP00000505774.1:n.*2117C>G
ENST00000680929.1:c.*1706C>G ENSP00000504916.1:n.*1706C>G
ENST00000681108.1:c.*1691C>G ENSP00000506701.1:n.*1691C>G
ENST00000681121.1:c.*1127C>G ENSP00000506466.1:n.*1127C>G
ENST00000681132.1:c.*1783C>G ENSP00000506195.1:n.*1783C>G
ENST00000681181.1:c.*2304C>G ENSP00000506038.1:n.*2304C>G
ENST00000681218.1:c.*2286C>G ENSP00000505976.1:n.*2286C>G
ENST00000681246.1:c.*1673C>G ENSP00000505534.1:n.*1673C>G
ENST00000681496.1:c.*2290C>G ENSP00000505948.1:n.*2290C>G
ENST00000681834.1:n.2661C>G
ENST00000681862.1:c.*2143C>G ENSP00000505537.1:n.*2143C>G
XM_011541247.1:c.2392C>G XP_011539549.1:p.Gln798Glu
XM_024446431.1:c.1954C>G XP_024302199.1:p.Gln652Glu
XM_024446432.1:c.1876C>G XP_024302200.1:p.Gln626Glu
XR_002956282.1:n.2469C>G
XR_946607.1:n.2294C>G