Canonical Allele Identifier: CA992693

Gene: AMPD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109625385G>A , CM000663.2:g.109625385G>A	GRCh38
NC_000001.10:g.110168007G>A , CM000663.1:g.110168007G>A	GRCh37
NC_000001.9:g.109969530G>A	NCBI36
NG_034075.1:g.10573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.174G>A	ENSP00000256578.4:p.Pro58=
ENST00000358729.9:c.174G>A	ENSP00000351573.5:p.Pro58=
ENST00000369840.7:c.174G>A	ENSP00000358855.3:p.Pro58=
ENST00000474459.6:n.531G>A
ENST00000476688.3:c.36-775G>A	ENSP00000437025.2:n.36-775G>A
ENST00000486282.7:n.184-277G>A
ENST00000524975.2:n.134G>A
ENST00000525415.2:n.432G>A
ENST00000526301.6:n.237G>A
ENST00000527846.7:n.78-277G>A
ENST00000528270.6:c.*162G>A	ENSP00000434891.2:n.*162G>A
ENST00000528667.7:c.174G>A MANE Select	ENSP00000436541.2:p.Pro58=
ENST00000531203.6:c.-19G>A	ENSP00000431975.2:n.-19G>A
ENST00000531734.6:c.93G>A	ENSP00000433739.2:p.Pro31=
ENST00000652975.2:c.92-277G>A	ENSP00000499620.2:n.92-277G>A
ENST00000655992.1:c.-19G>A	ENSP00000499740.1:n.-19G>A
ENST00000659122.2:c.174G>A	ENSP00000499621.2:p.Pro58=
ENST00000663749.1:c.92-277G>A	ENSP00000499739.1:n.92-277G>A
ENST00000667949.2:c.-378-277G>A	ENSP00000499465.2:n.-378-277G>A
ENST00000668421.1:c.*115G>A	ENSP00000499362.1:n.*115G>A
ENST00000679379.1:c.92-277G>A	ENSP00000505528.1:n.92-277G>A
ENST00000679593.1:c.174G>A	ENSP00000505999.1:p.Pro58=
ENST00000679880.1:n.432G>A
ENST00000679892.1:c.92-277G>A	ENSP00000504882.1:n.92-277G>A
ENST00000679981.1:c.92-277G>A	ENSP00000506422.1:n.92-277G>A
ENST00000680132.1:c.92-277G>A	ENSP00000505950.1:n.92-277G>A
ENST00000680148.1:c.92-277G>A	ENSP00000505994.1:n.92-277G>A
ENST00000680170.1:n.432G>A
ENST00000680192.1:n.525G>A
ENST00000680519.1:n.443-277G>A
ENST00000680531.1:c.92-277G>A	ENSP00000506332.1:n.92-277G>A
ENST00000680820.1:c.92-277G>A	ENSP00000505735.1:n.92-277G>A
ENST00000680832.1:c.92-277G>A	ENSP00000505774.1:n.92-277G>A
ENST00000680929.1:c.92-277G>A	ENSP00000504916.1:n.92-277G>A
ENST00000681108.1:c.92-277G>A	ENSP00000506701.1:n.92-277G>A
ENST00000681121.1:c.-19G>A	ENSP00000506466.1:n.-19G>A
ENST00000681132.1:c.92-277G>A	ENSP00000506195.1:n.92-277G>A
ENST00000681181.1:c.92-277G>A	ENSP00000506038.1:n.92-277G>A
ENST00000681218.1:c.92-277G>A	ENSP00000505976.1:n.92-277G>A
ENST00000681246.1:c.174G>A	ENSP00000505534.1:p.Pro58=
ENST00000681496.1:c.92-277G>A	ENSP00000505948.1:n.92-277G>A
ENST00000681834.1:n.300-277G>A
ENST00000681862.1:c.92-277G>A	ENSP00000505537.1:n.92-277G>A
ENST00000256578.7:c.336G>A	ENSP00000256578.3:p.Pro112=
ENST00000342115.8:c.93G>A	ENSP00000345498.4:p.Pro31=
ENST00000358729.8:c.160-277G>A	ENSP00000351573.4:n.160-277G>A
ENST00000369840.6:c.247G>A
ENST00000459643.2:n.252-277G>A
ENST00000474459.5:c.-378-277G>A	ENSP00000432344.1:n.-378-277G>A
ENST00000486282.6:n.153-277G>A
ENST00000526301.5:n.375G>A
ENST00000527846.5:c.237G>A	ENSP00000431904.1:p.Pro79=
ENST00000528270.5:c.367G>A	ENSP00000434891.1:n.367G>A
ENST00000528454.5:c.-19G>A	ENSP00000437164.1:n.-19G>A
ENST00000528667.5:c.336G>A	ENSP00000436541.1:p.Pro112=
ENST00000531203.5:c.-19G>A	ENSP00000431975.1:n.-19G>A
ENST00000531734.5:c.93G>A	ENSP00000433739.1:p.Pro31=
NM_001257360.1:c.336G>A	NP_001244289.1:p.Pro112=
NM_001257361.1:c.-19G>A	NP_001244290.1:n.-19G>A
NM_001308170.1:c.160-277G>A	NP_001295099.1:n.160-277G>A
NM_004037.7:c.336G>A	NP_004028.3:p.Pro112=
NM_139156.3:c.93G>A	NP_631895.1:p.Pro31=
XM_011541247.1:c.598-277G>A	XP_011539549.1:n.598-277G>A
XM_011541248.1:c.598-277G>A	XP_011539550.1:n.598-277G>A
XR_946607.1:n.621-277G>A
XM_024446431.1:c.160-277G>A	XP_024302199.1:n.160-277G>A
XM_024446432.1:c.160-277G>A	XP_024302200.1:n.160-277G>A
XR_002956282.1:n.796-277G>A
NM_001257360.2:c.336G>A	NP_001244289.1:p.Pro112=
NM_001368809.2:c.174G>A MANE Select	NP_001355738.1:p.Pro58=
NM_004037.9:c.174G>A	NP_004028.4:p.Pro58=
NM_001257361.2:c.-19G>A	NP_001244290.1:n.-19G>A
NM_139156.4:c.93G>A	NP_631895.1:p.Pro31=