Canonical Allele Identifier: CA419684851
Community Standard Title: NM_001368809.2(AMPD2):c.1704T>C (p.Asp568=)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109629332T>C , CM000663.2:g.109629332T>C GRCh38
NC_000001.10:g.110171954T>C , CM000663.1:g.110171954T>C GRCh37
NC_000001.9:g.109973477T>C NCBI36
NG_034075.1:g.14520T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.1704T>C MANE Select NP_001355738.1:p.Asp568=
ENST00000528667.7:c.1704T>C MANE Select ENSP00000436541.2:p.Asp568=
NM_001257360.1:c.1866T>C NP_001244289.1:p.Asp622=
NM_001257360.2:c.1866T>C NP_001244289.1:p.Asp622=
NM_001257361.1:c.1512T>C NP_001244290.1:p.Asp504=
NM_001257361.2:c.1512T>C NP_001244290.1:p.Asp504=
NM_001308170.1:c.1641T>C NP_001295099.1:p.Asp547=
NM_004037.7:c.1866T>C NP_004028.3:p.Asp622=
NM_004037.9:c.1704T>C NP_004028.4:p.Asp568=
NM_139156.3:c.1623T>C NP_631895.1:p.Asp541=
NM_139156.4:c.1623T>C NP_631895.1:p.Asp541=
NM_203404.1:c.1509T>C NP_981949.1:p.Asp503=
ENST00000256578.7:c.1866T>C ENSP00000256578.3:p.Asp622=
ENST00000256578.8:c.1704T>C ENSP00000256578.4:p.Asp568=
ENST00000342115.8:c.1623T>C ENSP00000345498.4:p.Asp541=
ENST00000358729.8:c.1641T>C ENSP00000351573.4:p.Asp547=
ENST00000358729.9:c.1704T>C ENSP00000351573.5:p.Asp568=
ENST00000369840.6:c.1777T>C
ENST00000369840.7:c.1704T>C ENSP00000358855.3:p.Asp568=
ENST00000393688.7:c.1509T>C ENSP00000377292.3:p.Asp503=
ENST00000467071.1:n.528T>C
ENST00000474459.6:n.2323T>C
ENST00000476688.2:c.32T>C
ENST00000476688.3:c.1386T>C ENSP00000437025.2:p.Asp462=
ENST00000479919.1:n.149T>C
ENST00000486282.7:n.2962T>C
ENST00000524975.2:n.2487T>C
ENST00000525415.2:n.2220T>C
ENST00000526301.5:n.1905T>C
ENST00000526301.6:n.1767T>C
ENST00000527846.7:n.1559T>C
ENST00000528454.5:c.1512T>C ENSP00000437164.1:p.Asp504=
ENST00000528667.5:c.1866T>C ENSP00000436541.1:p.Asp622=
ENST00000531203.6:c.1512T>C ENSP00000431975.2:p.Asp504=
ENST00000531734.6:c.1623T>C ENSP00000433739.2:p.Asp541=
ENST00000532851.1:n.505T>C
ENST00000533132.1:n.497T>C
ENST00000652975.2:c.*1456T>C ENSP00000499620.2:n.*1456T>C
ENST00000654851.1:n.1546T>C
ENST00000655992.1:c.1512T>C ENSP00000499740.1:p.Asp504=
ENST00000659122.2:c.1540T>C ENSP00000499621.2:n.1540T>C
ENST00000663749.1:c.*1451T>C ENSP00000499739.1:n.*1451T>C
ENST00000667949.2:c.1104T>C ENSP00000499465.2:p.Asp368=
ENST00000668421.1:c.*1645T>C ENSP00000499362.1:n.*1645T>C
ENST00000679379.1:c.*1456T>C ENSP00000505528.1:n.*1456T>C
ENST00000679593.1:c.1704T>C ENSP00000505999.1:p.Asp568=
ENST00000679880.1:n.2240T>C
ENST00000679892.1:c.*1472T>C ENSP00000504882.1:n.*1472T>C
ENST00000679981.1:c.*1718T>C ENSP00000506422.1:n.*1718T>C
ENST00000680132.1:c.*1654T>C ENSP00000505950.1:n.*1654T>C
ENST00000680148.1:c.*1456T>C ENSP00000505994.1:n.*1456T>C
ENST00000680170.1:n.2569T>C
ENST00000680192.1:n.2964T>C
ENST00000680519.1:n.1940T>C
ENST00000680531.1:c.*1451T>C ENSP00000506332.1:n.*1451T>C
ENST00000680820.1:c.*1758T>C ENSP00000505735.1:n.*1758T>C
ENST00000680832.1:c.*1804T>C ENSP00000505774.1:n.*1804T>C
ENST00000680929.1:c.*1393T>C ENSP00000504916.1:n.*1393T>C
ENST00000681108.1:c.*1378T>C ENSP00000506701.1:n.*1378T>C
ENST00000681121.1:c.*814T>C ENSP00000506466.1:n.*814T>C
ENST00000681132.1:c.*1470T>C ENSP00000506195.1:n.*1470T>C
ENST00000681181.1:c.*1991T>C ENSP00000506038.1:n.*1991T>C
ENST00000681218.1:c.*1977T>C ENSP00000505976.1:n.*1977T>C
ENST00000681246.1:c.*1360T>C ENSP00000505534.1:n.*1360T>C
ENST00000681496.1:c.*1977T>C ENSP00000505948.1:n.*1977T>C
ENST00000681834.1:n.2043T>C
ENST00000681862.1:c.*1830T>C ENSP00000505537.1:n.*1830T>C
XM_011541247.1:c.2079T>C XP_011539549.1:p.Asp693=
XM_024446431.1:c.1641T>C XP_024302199.1:p.Asp547=
XM_024446432.1:c.1563T>C XP_024302200.1:p.Asp521=
XR_002956282.1:n.2277T>C
XR_946607.1:n.2102T>C