Canonical Allele Identifier: CA341559031

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171308A>C (hg19) ; chr1:g.109628686A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628686A>C , CM000663.2:g.109628686A>C	GRCh38
NC_000001.10:g.110171308A>C , CM000663.1:g.110171308A>C	GRCh37
NC_000001.9:g.109972831A>C	NCBI36
NG_034075.1:g.13874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1451A>C	ENSP00000256578.4:p.Glu484Ala
ENST00000358729.9:c.1451A>C	ENSP00000351573.5:p.Glu484Ala
ENST00000369840.7:c.1451A>C	ENSP00000358855.3:p.Glu484Ala
ENST00000474459.6:n.2070A>C
ENST00000476688.3:c.1133A>C	ENSP00000437025.2:p.Glu378Ala
ENST00000486282.7:n.2407A>C
ENST00000524975.2:n.1932A>C
ENST00000525415.2:n.1967A>C
ENST00000526301.6:n.1514A>C
ENST00000527846.7:n.1306A>C
ENST00000528667.7:c.1451A>C MANE Select	ENSP00000436541.2:p.Glu484Ala
ENST00000531203.6:c.1259A>C	ENSP00000431975.2:p.Glu420Ala
ENST00000531734.6:c.1370A>C	ENSP00000433739.2:p.Glu457Ala
ENST00000652975.2:c.*1203A>C	ENSP00000499620.2:n.*1203A>C
ENST00000654851.1:n.1293A>C
ENST00000655992.1:c.1259A>C	ENSP00000499740.1:p.Glu420Ala
ENST00000659122.2:c.1407+191A>C	ENSP00000499621.2:n.1407+191A>C
ENST00000663749.1:c.*1198A>C	ENSP00000499739.1:n.*1198A>C
ENST00000667949.2:c.851A>C	ENSP00000499465.2:p.Glu284Ala
ENST00000668421.1:c.*1392A>C	ENSP00000499362.1:n.*1392A>C
ENST00000679379.1:c.*1203A>C	ENSP00000505528.1:n.*1203A>C
ENST00000679593.1:c.1451A>C	ENSP00000505999.1:p.Glu484Ala
ENST00000679880.1:n.1987A>C
ENST00000679892.1:c.*1219A>C	ENSP00000504882.1:n.*1219A>C
ENST00000679981.1:c.*1465A>C	ENSP00000506422.1:n.*1465A>C
ENST00000680132.1:c.*1401A>C	ENSP00000505950.1:n.*1401A>C
ENST00000680148.1:c.*1203A>C	ENSP00000505994.1:n.*1203A>C
ENST00000680170.1:n.2316A>C
ENST00000680192.1:n.2409A>C
ENST00000680519.1:n.1687A>C
ENST00000680531.1:c.*1198A>C	ENSP00000506332.1:n.*1198A>C
ENST00000680820.1:c.*1203A>C	ENSP00000505735.1:n.*1203A>C
ENST00000680832.1:c.*1551A>C	ENSP00000505774.1:n.*1551A>C
ENST00000680929.1:c.*1140A>C	ENSP00000504916.1:n.*1140A>C
ENST00000681108.1:c.*1245+191A>C	ENSP00000506701.1:n.*1245+191A>C
ENST00000681121.1:c.*561A>C	ENSP00000506466.1:n.*561A>C
ENST00000681132.1:c.*1217A>C	ENSP00000506195.1:n.*1217A>C
ENST00000681181.1:c.*1436A>C	ENSP00000506038.1:n.*1436A>C
ENST00000681218.1:c.*1724A>C	ENSP00000505976.1:n.*1724A>C
ENST00000681246.1:c.*1107A>C	ENSP00000505534.1:n.*1107A>C
ENST00000681496.1:c.*1724A>C	ENSP00000505948.1:n.*1724A>C
ENST00000681834.1:n.1790A>C
ENST00000681862.1:c.*1577A>C	ENSP00000505537.1:n.*1577A>C
ENST00000256578.7:c.1613A>C	ENSP00000256578.3:p.Glu538Ala
ENST00000342115.8:c.1370A>C	ENSP00000345498.4:p.Glu457Ala
ENST00000358729.8:c.1388A>C	ENSP00000351573.4:p.Glu463Ala
ENST00000369840.6:c.1524A>C
ENST00000393688.7:c.1256A>C	ENSP00000377292.3:p.Glu419Ala
ENST00000526301.5:n.1652A>C
ENST00000528454.5:c.1259A>C	ENSP00000437164.1:p.Glu420Ala
ENST00000528667.5:c.1613A>C	ENSP00000436541.1:p.Glu538Ala
ENST00000532851.1:n.161A>C
ENST00000533132.1:n.153A>C
NM_001257360.1:c.1613A>C	NP_001244289.1:p.Glu538Ala
NM_001257361.1:c.1259A>C	NP_001244290.1:p.Glu420Ala
NM_001308170.1:c.1388A>C	NP_001295099.1:p.Glu463Ala
NM_004037.7:c.1613A>C	NP_004028.3:p.Glu538Ala
NM_139156.3:c.1370A>C	NP_631895.1:p.Glu457Ala
NM_203404.1:c.1256A>C	NP_981949.1:p.Glu419Ala
XM_011541247.1:c.1826A>C	XP_011539549.1:p.Glu609Ala
XM_011541248.1:c.1782+191A>C	XP_011539550.1:n.1782+191A>C
XR_946607.1:n.1849A>C
XM_024446431.1:c.1388A>C	XP_024302199.1:p.Glu463Ala
XM_024446432.1:c.1430+191A>C	XP_024302200.1:n.1430+191A>C
XR_002956282.1:n.2024A>C
NM_001257360.2:c.1613A>C	NP_001244289.1:p.Glu538Ala
NM_001368809.2:c.1451A>C MANE Select	NP_001355738.1:p.Glu484Ala
NM_004037.9:c.1451A>C	NP_004028.4:p.Glu484Ala
NM_001257361.2:c.1259A>C	NP_001244290.1:p.Glu420Ala
NM_139156.4:c.1370A>C	NP_631895.1:p.Glu457Ala