Canonical Allele Identifier: CA341555095

Gene: AMPD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109626335G>C , CM000663.2:g.109626335G>C	GRCh38
NC_000001.10:g.110168957G>C , CM000663.1:g.110168957G>C	GRCh37
NC_000001.9:g.109970480G>C	NCBI36
NG_034075.1:g.11523G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.439G>C	ENSP00000256578.4:p.Gly147Arg
ENST00000358729.9:c.439G>C	ENSP00000351573.5:p.Gly147Arg
ENST00000369840.7:c.439G>C	ENSP00000358855.3:p.Gly147Arg
ENST00000474459.6:n.796G>C
ENST00000476688.3:c.121G>C	ENSP00000437025.2:p.Gly41Arg
ENST00000486282.7:n.490G>C
ENST00000524975.2:n.399G>C
ENST00000525415.2:n.697G>C
ENST00000526301.6:n.502G>C
ENST00000527846.7:n.294G>C
ENST00000528667.7:c.439G>C MANE Select	ENSP00000436541.2:p.Gly147Arg
ENST00000531203.6:c.247G>C	ENSP00000431975.2:p.Gly83Arg
ENST00000531734.6:c.358G>C	ENSP00000433739.2:p.Gly120Arg
ENST00000652975.2:c.*191G>C	ENSP00000499620.2:n.*191G>C
ENST00000654851.1:n.281G>C
ENST00000655992.1:c.247G>C	ENSP00000499740.1:p.Gly83Arg
ENST00000659122.2:c.439G>C	ENSP00000499621.2:p.Gly147Arg
ENST00000663749.1:c.*191G>C	ENSP00000499739.1:n.*191G>C
ENST00000667949.2:c.-162G>C	ENSP00000499465.2:n.-162G>C
ENST00000668421.1:c.*380G>C	ENSP00000499362.1:n.*380G>C
ENST00000679379.1:c.*191G>C	ENSP00000505528.1:n.*191G>C
ENST00000679593.1:c.439G>C	ENSP00000505999.1:p.Gly147Arg
ENST00000679880.1:n.697G>C
ENST00000679892.1:c.*191G>C	ENSP00000504882.1:n.*191G>C
ENST00000679981.1:c.*191G>C	ENSP00000506422.1:n.*191G>C
ENST00000680132.1:c.*191G>C	ENSP00000505950.1:n.*191G>C
ENST00000680148.1:c.*191G>C	ENSP00000505994.1:n.*191G>C
ENST00000680170.1:n.697G>C
ENST00000680192.1:n.790G>C
ENST00000680519.1:n.659G>C
ENST00000680531.1:c.*191G>C	ENSP00000506332.1:n.*191G>C
ENST00000680820.1:c.*191G>C	ENSP00000505735.1:n.*191G>C
ENST00000680832.1:c.*191G>C	ENSP00000505774.1:n.*191G>C
ENST00000680929.1:c.*191G>C	ENSP00000504916.1:n.*191G>C
ENST00000681108.1:c.*191G>C	ENSP00000506701.1:n.*191G>C
ENST00000681121.1:c.247G>C	ENSP00000506466.1:p.Gly83Arg
ENST00000681132.1:c.*191G>C	ENSP00000506195.1:n.*191G>C
ENST00000681181.1:c.*191G>C	ENSP00000506038.1:n.*191G>C
ENST00000681218.1:c.*191G>C	ENSP00000505976.1:n.*191G>C
ENST00000681246.1:c.*95G>C	ENSP00000505534.1:n.*95G>C
ENST00000681496.1:c.*191G>C	ENSP00000505948.1:n.*191G>C
ENST00000681834.1:n.516G>C
ENST00000681862.1:c.*191G>C	ENSP00000505537.1:n.*191G>C
ENST00000256578.7:c.601G>C	ENSP00000256578.3:p.Gly201Arg
ENST00000342115.8:c.358G>C	ENSP00000345498.4:p.Gly120Arg
ENST00000358729.8:c.376G>C	ENSP00000351573.4:p.Gly126Arg
ENST00000369840.6:c.512G>C
ENST00000393688.7:c.244G>C	ENSP00000377292.3:p.Gly82Arg
ENST00000459643.2:n.468G>C
ENST00000474459.5:c.-162G>C	ENSP00000432344.1:n.-162G>C
ENST00000486282.6:n.459G>C
ENST00000525415.1:n.48G>C
ENST00000526301.5:n.640G>C
ENST00000527846.5:c.502G>C	ENSP00000431904.1:p.Gly168Arg
ENST00000528454.5:c.247G>C	ENSP00000437164.1:p.Gly83Arg
ENST00000528667.5:c.601G>C	ENSP00000436541.1:p.Gly201Arg
ENST00000531203.5:c.247G>C	ENSP00000431975.1:p.Gly83Arg
ENST00000534144.1:n.265G>C
NM_001257360.1:c.601G>C	NP_001244289.1:p.Gly201Arg
NM_001257361.1:c.247G>C	NP_001244290.1:p.Gly83Arg
NM_001308170.1:c.376G>C	NP_001295099.1:p.Gly126Arg
NM_004037.7:c.601G>C	NP_004028.3:p.Gly201Arg
NM_139156.3:c.358G>C	NP_631895.1:p.Gly120Arg
NM_203404.1:c.244G>C	NP_981949.1:p.Gly82Arg
XM_011541247.1:c.814G>C	XP_011539549.1:p.Gly272Arg
XM_011541248.1:c.814G>C	XP_011539550.1:p.Gly272Arg
XR_946607.1:n.837G>C
XM_024446431.1:c.376G>C	XP_024302199.1:p.Gly126Arg
XM_024446432.1:c.376G>C	XP_024302200.1:p.Gly126Arg
XR_002956282.1:n.1012G>C
NM_001257360.2:c.601G>C	NP_001244289.1:p.Gly201Arg
NM_001368809.2:c.439G>C MANE Select	NP_001355738.1:p.Gly147Arg
NM_004037.9:c.439G>C	NP_004028.4:p.Gly147Arg
NM_001257361.2:c.247G>C	NP_001244290.1:p.Gly83Arg
NM_139156.4:c.358G>C	NP_631895.1:p.Gly120Arg