Canonical Allele Identifier: CA341554075

Gene: AMPD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109625675G>A , CM000663.2:g.109625675G>A	GRCh38
NC_000001.10:g.110168297G>A , CM000663.1:g.110168297G>A	GRCh37
NC_000001.9:g.109969820G>A	NCBI36
NG_034075.1:g.10863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.236G>A	ENSP00000256578.4:p.Arg79His
ENST00000358729.9:c.236G>A	ENSP00000351573.5:p.Arg79His
ENST00000369840.7:c.236G>A	ENSP00000358855.3:p.Arg79His
ENST00000474459.6:n.593G>A
ENST00000476688.3:c.36-485G>A	ENSP00000437025.2:n.36-485G>A
ENST00000486282.7:n.197G>A
ENST00000524975.2:n.196G>A
ENST00000525415.2:n.494G>A
ENST00000526301.6:n.299G>A
ENST00000527846.7:n.91G>A
ENST00000528270.6:c.*224G>A	ENSP00000434891.2:n.*224G>A
ENST00000528667.7:c.236G>A MANE Select	ENSP00000436541.2:p.Arg79His
ENST00000531203.6:c.44G>A	ENSP00000431975.2:p.Arg15His
ENST00000531734.6:c.155G>A	ENSP00000433739.2:p.Arg52His
ENST00000652975.2:c.105G>A	ENSP00000499620.2:p.Pro35=
ENST00000654851.1:n.78G>A
ENST00000655992.1:c.44G>A	ENSP00000499740.1:p.Arg15His
ENST00000659122.2:c.236G>A	ENSP00000499621.2:p.Arg79His
ENST00000663749.1:c.105G>A	ENSP00000499739.1:p.Pro35=
ENST00000667949.2:c.-365G>A	ENSP00000499465.2:n.-365G>A
ENST00000668421.1:c.*177G>A	ENSP00000499362.1:n.*177G>A
ENST00000679379.1:c.105G>A	ENSP00000505528.1:p.Pro35=
ENST00000679593.1:c.236G>A	ENSP00000505999.1:p.Arg79His
ENST00000679880.1:n.494G>A
ENST00000679892.1:c.105G>A	ENSP00000504882.1:p.Pro35=
ENST00000679981.1:c.105G>A	ENSP00000506422.1:p.Pro35=
ENST00000680132.1:c.105G>A	ENSP00000505950.1:p.Pro35=
ENST00000680148.1:c.105G>A	ENSP00000505994.1:p.Pro35=
ENST00000680170.1:n.494G>A
ENST00000680192.1:n.587G>A
ENST00000680519.1:n.456G>A
ENST00000680531.1:c.105G>A	ENSP00000506332.1:p.Pro35=
ENST00000680820.1:c.105G>A	ENSP00000505735.1:p.Pro35=
ENST00000680832.1:c.105G>A	ENSP00000505774.1:p.Pro35=
ENST00000680929.1:c.105G>A	ENSP00000504916.1:p.Pro35=
ENST00000681108.1:c.105G>A	ENSP00000506701.1:p.Pro35=
ENST00000681121.1:c.44G>A	ENSP00000506466.1:p.Arg15His
ENST00000681132.1:c.105G>A	ENSP00000506195.1:p.Pro35=
ENST00000681181.1:c.105G>A	ENSP00000506038.1:p.Pro35=
ENST00000681218.1:c.105G>A	ENSP00000505976.1:p.Pro35=
ENST00000681246.1:c.236G>A	ENSP00000505534.1:p.Arg79His
ENST00000681496.1:c.105G>A	ENSP00000505948.1:p.Pro35=
ENST00000681834.1:n.313G>A
ENST00000681862.1:c.105G>A	ENSP00000505537.1:p.Pro35=
ENST00000256578.7:c.398G>A	ENSP00000256578.3:p.Arg133His
ENST00000342115.8:c.155G>A	ENSP00000345498.4:p.Arg52His
ENST00000358729.8:c.173G>A	ENSP00000351573.4:p.Arg58His
ENST00000369840.6:c.309G>A
ENST00000393688.7:c.41G>A	ENSP00000377292.3:p.Arg14His
ENST00000459643.2:n.265G>A
ENST00000474459.5:c.-365G>A	ENSP00000432344.1:n.-365G>A
ENST00000486282.6:n.166G>A
ENST00000526301.5:n.437G>A
ENST00000527846.5:c.299G>A	ENSP00000431904.1:p.Arg100His
ENST00000528270.5:c.429G>A	ENSP00000434891.1:n.429G>A
ENST00000528454.5:c.44G>A	ENSP00000437164.1:p.Arg15His
ENST00000528667.5:c.398G>A	ENSP00000436541.1:p.Arg133His
ENST00000531203.5:c.44G>A	ENSP00000431975.1:p.Arg15His
ENST00000531734.5:c.155G>A	ENSP00000433739.1:p.Arg52His
NM_001257360.1:c.398G>A	NP_001244289.1:p.Arg133His
NM_001257361.1:c.44G>A	NP_001244290.1:p.Arg15His
NM_001308170.1:c.173G>A	NP_001295099.1:p.Arg58His
NM_004037.7:c.398G>A	NP_004028.3:p.Arg133His
NM_139156.3:c.155G>A	NP_631895.1:p.Arg52His
NM_203404.1:c.41G>A	NP_981949.1:p.Arg14His
XM_011541247.1:c.611G>A	XP_011539549.1:p.Arg204His
XM_011541248.1:c.611G>A	XP_011539550.1:p.Arg204His
XR_946607.1:n.634G>A
XM_024446431.1:c.173G>A	XP_024302199.1:p.Arg58His
XM_024446432.1:c.173G>A	XP_024302200.1:p.Arg58His
XR_002956282.1:n.809G>A
NM_001257360.2:c.398G>A	NP_001244289.1:p.Arg133His
NM_001368809.2:c.236G>A MANE Select	NP_001355738.1:p.Arg79His
NM_004037.9:c.236G>A	NP_004028.4:p.Arg79His
NM_001257361.2:c.44G>A	NP_001244290.1:p.Arg15His
NM_139156.4:c.155G>A	NP_631895.1:p.Arg52His