Canonical Allele Identifier: CA28686341

Gene: AMPD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109621131C>T , CM000663.2:g.109621131C>T	GRCh38
NC_000001.10:g.110163753C>T , CM000663.1:g.110163753C>T	GRCh37
NC_000001.9:g.109965276C>T	NCBI36
NG_034075.1:g.6319C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001368809.2:c.-45C>T MANE Select	NP_001355738.1:n.-45C>T
ENST00000528667.7:c.-45C>T MANE Select	ENSP00000436541.2:n.-45C>T
NM_001257360.1:c.118C>T	NP_001244289.1:p.Arg40Trp
NM_001257360.2:c.118C>T	NP_001244289.1:p.Arg40Trp
NM_001308170.1:c.24C>T	NP_001295099.1:p.Ala8=
NM_004037.7:c.118C>T	NP_004028.3:p.Arg40Trp
NM_139156.3:c.10+853C>T	NP_631895.1:n.10+853C>T
NM_139156.4:c.10+853C>T	NP_631895.1:n.10+853C>T
ENST00000256578.7:c.118C>T	ENSP00000256578.3:p.Arg40Trp
ENST00000256578.8:c.-45C>T	ENSP00000256578.4:n.-45C>T
ENST00000342115.8:c.10+853C>T	ENSP00000345498.4:n.10+853C>T
ENST00000358729.8:c.24C>T	ENSP00000351573.4:p.Ala8=
ENST00000369840.6:c.29C>T
ENST00000369840.7:c.-45C>T	ENSP00000358855.3:n.-45C>T
ENST00000474459.5:c.-379+853C>T	ENSP00000432344.1:n.-379+853C>T
ENST00000474459.6:n.448+853C>T
ENST00000486282.6:n.17C>T
ENST00000486282.7:n.48C>T
ENST00000525415.2:n.214C>T
ENST00000526301.5:n.292+853C>T
ENST00000528270.6:c.-45C>T	ENSP00000434891.2:n.-45C>T
ENST00000528667.5:c.118C>T	ENSP00000436541.1:p.Arg40Trp
ENST00000531203.5:c.-271+480C>T	ENSP00000431975.1:n.-271+480C>T
ENST00000531203.6:c.-271+480C>T	ENSP00000431975.2:n.-271+480C>T
ENST00000531734.5:c.10+853C>T	ENSP00000433739.1:n.10+853C>T
ENST00000531734.6:c.10+853C>T	ENSP00000433739.2:n.10+853C>T
ENST00000652975.2:c.-45C>T	ENSP00000499620.2:n.-45C>T
ENST00000655992.1:c.-102+853C>T	ENSP00000499740.1:n.-102+853C>T
ENST00000667949.2:c.-379+853C>T	ENSP00000499465.2:n.-379+853C>T
ENST00000679379.1:c.-45C>T	ENSP00000505528.1:n.-45C>T
ENST00000679593.1:c.-45C>T	ENSP00000505999.1:n.-45C>T
ENST00000679880.1:n.214C>T
ENST00000679892.1:c.-45C>T	ENSP00000504882.1:n.-45C>T
ENST00000679981.1:c.-45C>T	ENSP00000506422.1:n.-45C>T
ENST00000680132.1:c.-45C>T	ENSP00000505950.1:n.-45C>T
ENST00000680148.1:c.-45C>T	ENSP00000505994.1:n.-45C>T
ENST00000680170.1:n.214C>T
ENST00000680192.1:n.442+853C>T
ENST00000680519.1:n.442+853C>T
ENST00000680531.1:c.-45C>T	ENSP00000506332.1:n.-45C>T
ENST00000680820.1:c.-45C>T	ENSP00000505735.1:n.-45C>T
ENST00000680832.1:c.-45C>T	ENSP00000505774.1:n.-45C>T
ENST00000680929.1:c.-45C>T	ENSP00000504916.1:n.-45C>T
ENST00000681108.1:c.-45C>T	ENSP00000506701.1:n.-45C>T
ENST00000681132.1:c.-45C>T	ENSP00000506195.1:n.-45C>T
ENST00000681181.1:c.-45C>T	ENSP00000506038.1:n.-45C>T
ENST00000681218.1:c.-45C>T	ENSP00000505976.1:n.-45C>T
ENST00000681246.1:c.-45C>T	ENSP00000505534.1:n.-45C>T
ENST00000681496.1:c.-45C>T	ENSP00000505948.1:n.-45C>T
ENST00000681834.1:n.164C>T
ENST00000681862.1:c.-45C>T	ENSP00000505537.1:n.-45C>T
XM_011541247.1:c.597+853C>T	XP_011539549.1:n.597+853C>T
XM_011541248.1:c.597+853C>T	XP_011539550.1:n.597+853C>T
XM_024446431.1:c.24C>T	XP_024302199.1:p.Ala8=
XM_024446432.1:c.24C>T	XP_024302200.1:p.Ala8=
XR_002956282.1:n.660C>T
XR_946607.1:n.620+853C>T