Canonical Allele Identifier: CA992705

Gene: AMPD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109625430C>T , CM000663.2:g.109625430C>T	GRCh38
NC_000001.10:g.110168052C>T , CM000663.1:g.110168052C>T	GRCh37
NC_000001.9:g.109969575C>T	NCBI36
NG_034075.1:g.10618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.219C>T	ENSP00000256578.4:p.Ala73=
ENST00000358729.9:c.219C>T	ENSP00000351573.5:p.Ala73=
ENST00000369840.7:c.219C>T	ENSP00000358855.3:p.Ala73=
ENST00000474459.6:n.576C>T
ENST00000476688.3:c.36-730C>T	ENSP00000437025.2:n.36-730C>T
ENST00000486282.7:n.184-232C>T
ENST00000524975.2:n.179C>T
ENST00000525415.2:n.477C>T
ENST00000526301.6:n.282C>T
ENST00000527846.7:n.78-232C>T
ENST00000528270.6:c.*207C>T	ENSP00000434891.2:n.*207C>T
ENST00000528667.7:c.219C>T MANE Select	ENSP00000436541.2:p.Ala73=
ENST00000531203.6:c.27C>T	ENSP00000431975.2:p.Ala9=
ENST00000531734.6:c.138C>T	ENSP00000433739.2:p.Ala46=
ENST00000652975.2:c.92-232C>T	ENSP00000499620.2:n.92-232C>T
ENST00000655992.1:c.27C>T	ENSP00000499740.1:p.Ala9=
ENST00000659122.2:c.219C>T	ENSP00000499621.2:p.Ala73=
ENST00000663749.1:c.92-232C>T	ENSP00000499739.1:n.92-232C>T
ENST00000667949.2:c.-378-232C>T	ENSP00000499465.2:n.-378-232C>T
ENST00000668421.1:c.*160C>T	ENSP00000499362.1:n.*160C>T
ENST00000679379.1:c.92-232C>T	ENSP00000505528.1:n.92-232C>T
ENST00000679593.1:c.219C>T	ENSP00000505999.1:p.Ala73=
ENST00000679880.1:n.477C>T
ENST00000679892.1:c.92-232C>T	ENSP00000504882.1:n.92-232C>T
ENST00000679981.1:c.92-232C>T	ENSP00000506422.1:n.92-232C>T
ENST00000680132.1:c.92-232C>T	ENSP00000505950.1:n.92-232C>T
ENST00000680148.1:c.92-232C>T	ENSP00000505994.1:n.92-232C>T
ENST00000680170.1:n.477C>T
ENST00000680192.1:n.570C>T
ENST00000680519.1:n.443-232C>T
ENST00000680531.1:c.92-232C>T	ENSP00000506332.1:n.92-232C>T
ENST00000680820.1:c.92-232C>T	ENSP00000505735.1:n.92-232C>T
ENST00000680832.1:c.92-232C>T	ENSP00000505774.1:n.92-232C>T
ENST00000680929.1:c.92-232C>T	ENSP00000504916.1:n.92-232C>T
ENST00000681108.1:c.92-232C>T	ENSP00000506701.1:n.92-232C>T
ENST00000681121.1:c.27C>T	ENSP00000506466.1:p.Ala9=
ENST00000681132.1:c.92-232C>T	ENSP00000506195.1:n.92-232C>T
ENST00000681181.1:c.92-232C>T	ENSP00000506038.1:n.92-232C>T
ENST00000681218.1:c.92-232C>T	ENSP00000505976.1:n.92-232C>T
ENST00000681246.1:c.219C>T	ENSP00000505534.1:p.Ala73=
ENST00000681496.1:c.92-232C>T	ENSP00000505948.1:n.92-232C>T
ENST00000681834.1:n.300-232C>T
ENST00000681862.1:c.92-232C>T	ENSP00000505537.1:n.92-232C>T
ENST00000256578.7:c.381C>T	ENSP00000256578.3:p.Ala127=
ENST00000342115.8:c.138C>T	ENSP00000345498.4:p.Ala46=
ENST00000358729.8:c.160-232C>T	ENSP00000351573.4:n.160-232C>T
ENST00000369840.6:c.292C>T
ENST00000459643.2:n.252-232C>T
ENST00000474459.5:c.-378-232C>T	ENSP00000432344.1:n.-378-232C>T
ENST00000486282.6:n.153-232C>T
ENST00000526301.5:n.420C>T
ENST00000527846.5:c.282C>T	ENSP00000431904.1:p.Ala94=
ENST00000528270.5:c.412C>T	ENSP00000434891.1:n.412C>T
ENST00000528454.5:c.27C>T	ENSP00000437164.1:p.Ala9=
ENST00000528667.5:c.381C>T	ENSP00000436541.1:p.Ala127=
ENST00000531203.5:c.27C>T	ENSP00000431975.1:p.Ala9=
ENST00000531734.5:c.138C>T	ENSP00000433739.1:p.Ala46=
NM_001257360.1:c.381C>T	NP_001244289.1:p.Ala127=
NM_001257361.1:c.27C>T	NP_001244290.1:p.Ala9=
NM_001308170.1:c.160-232C>T	NP_001295099.1:n.160-232C>T
NM_004037.7:c.381C>T	NP_004028.3:p.Ala127=
NM_139156.3:c.138C>T	NP_631895.1:p.Ala46=
NM_203404.1:c.-205C>T	NP_981949.1:n.-205C>T
XM_011541247.1:c.598-232C>T	XP_011539549.1:n.598-232C>T
XM_011541248.1:c.598-232C>T	XP_011539550.1:n.598-232C>T
XR_946607.1:n.621-232C>T
XM_024446431.1:c.160-232C>T	XP_024302199.1:n.160-232C>T
XM_024446432.1:c.160-232C>T	XP_024302200.1:n.160-232C>T
XR_002956282.1:n.796-232C>T
NM_001257360.2:c.381C>T	NP_001244289.1:p.Ala127=
NM_001368809.2:c.219C>T MANE Select	NP_001355738.1:p.Ala73=
NM_004037.9:c.219C>T	NP_004028.4:p.Ala73=
NM_001257361.2:c.27C>T	NP_001244290.1:p.Ala9=
NM_139156.4:c.138C>T	NP_631895.1:p.Ala46=