Canonical Allele Identifier: CA916260278
Gene: AMPD2 HGNC NCBI

Linked Data

dbSNP Id: rs1085307727

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109625315dup , CM000663.2:g.109625315dup GRCh38
NC_000001.10:g.110167937dup , CM000663.1:g.110167937dup GRCh37
NC_000001.9:g.109969460dup NCBI36
NG_034075.1:g.10503dup

Transcript Alleles

HGVS Amino-acid change
ENST00000256578.8:c.104dup ENSP00000256578.4:p.Leu36SerfsTer?
ENST00000358729.9:c.104dup ENSP00000351573.5:p.Leu36SerfsTer?
ENST00000369840.7:c.104dup ENSP00000358855.3:p.Leu36SerfsTer?
ENST00000474459.6:n.461dup
ENST00000476688.3:c.36-845dup ENSP00000437025.2:n.36-845dup
ENST00000486282.7:n.184-347dup
ENST00000524975.2:n.64dup
ENST00000525415.2:n.362dup
ENST00000526301.6:n.167dup
ENST00000527846.7:n.78-347dup
ENST00000528270.6:c.*92dup ENSP00000434891.2:n.*92dup
ENST00000528667.7:c.104dup MANE Select ENSP00000436541.2:p.Leu36SerfsTer?
ENST00000531203.6:c.-89dup ENSP00000431975.2:n.-89dup
ENST00000531734.6:c.23dup ENSP00000433739.2:p.Leu9SerfsTer?
ENST00000652975.2:c.92-347dup ENSP00000499620.2:n.92-347dup
ENST00000655992.1:c.-89dup ENSP00000499740.1:n.-89dup
ENST00000659122.2:c.104dup ENSP00000499621.2:p.Leu36SerfsTer?
ENST00000663749.1:c.92-347dup ENSP00000499739.1:n.92-347dup
ENST00000667949.2:c.-378-347dup ENSP00000499465.2:n.-378-347dup
ENST00000668421.1:c.*45dup ENSP00000499362.1:n.*45dup
ENST00000679379.1:c.92-347dup ENSP00000505528.1:n.92-347dup
ENST00000679593.1:c.104dup ENSP00000505999.1:p.Leu36SerfsTer?
ENST00000679880.1:n.362dup
ENST00000679892.1:c.92-347dup ENSP00000504882.1:n.92-347dup
ENST00000679981.1:c.92-347dup ENSP00000506422.1:n.92-347dup
ENST00000680132.1:c.92-347dup ENSP00000505950.1:n.92-347dup
ENST00000680148.1:c.92-347dup ENSP00000505994.1:n.92-347dup
ENST00000680170.1:n.362dup
ENST00000680192.1:n.455dup
ENST00000680519.1:n.443-347dup
ENST00000680531.1:c.92-347dup ENSP00000506332.1:n.92-347dup
ENST00000680820.1:c.92-347dup ENSP00000505735.1:n.92-347dup
ENST00000680832.1:c.92-347dup ENSP00000505774.1:n.92-347dup
ENST00000680929.1:c.92-347dup ENSP00000504916.1:n.92-347dup
ENST00000681108.1:c.92-347dup ENSP00000506701.1:n.92-347dup
ENST00000681121.1:c.-89dup ENSP00000506466.1:n.-89dup
ENST00000681132.1:c.92-347dup ENSP00000506195.1:n.92-347dup
ENST00000681181.1:c.92-347dup ENSP00000506038.1:n.92-347dup
ENST00000681218.1:c.92-347dup ENSP00000505976.1:n.92-347dup
ENST00000681246.1:c.104dup ENSP00000505534.1:p.Leu36SerfsTer?
ENST00000681496.1:c.92-347dup ENSP00000505948.1:n.92-347dup
ENST00000681834.1:n.300-347dup
ENST00000681862.1:c.92-347dup ENSP00000505537.1:n.92-347dup
ENST00000256578.7:c.266dup ENSP00000256578.3:p.Leu90SerfsTer?
ENST00000342115.8:c.23dup ENSP00000345498.4:p.Leu9SerfsTer?
ENST00000358729.8:c.160-347dup ENSP00000351573.4:n.160-347dup
ENST00000369840.6:c.177dup
ENST00000459643.2:n.252-347dup
ENST00000474459.5:c.-378-347dup ENSP00000432344.1:n.-378-347dup
ENST00000486282.6:n.153-347dup
ENST00000526301.5:n.305dup
ENST00000527846.5:c.167dup ENSP00000431904.1:p.Leu57SerfsTer?
ENST00000528270.5:c.297dup ENSP00000434891.1:n.297dup
ENST00000528454.5:c.-89dup ENSP00000437164.1:n.-89dup
ENST00000528667.5:c.266dup ENSP00000436541.1:p.Leu90SerfsTer?
ENST00000531203.5:c.-89dup ENSP00000431975.1:n.-89dup
ENST00000531734.5:c.23dup ENSP00000433739.1:p.Leu9SerfsTer?
NM_001257360.1:c.266dup NP_001244289.1:p.Leu90SerfsTer?
NM_001257361.1:c.-89dup NP_001244290.1:n.-89dup
NM_001308170.1:c.160-347dup NP_001295099.1:n.160-347dup
NM_004037.7:c.266dup NP_004028.3:p.Leu90SerfsTer?
NM_139156.3:c.23dup NP_631895.1:p.Leu9SerfsTer?
XM_011541247.1:c.598-347dup XP_011539549.1:n.598-347dup
XM_011541248.1:c.598-347dup XP_011539550.1:n.598-347dup
XR_946607.1:n.621-347dup
XM_024446431.1:c.160-347dup XP_024302199.1:n.160-347dup
XM_024446432.1:c.160-347dup XP_024302200.1:n.160-347dup
XR_002956282.1:n.796-347dup
NM_001257360.2:c.266dup NP_001244289.1:p.Leu90SerfsTer?
NM_001368809.2:c.104dup MANE Select NP_001355738.1:p.Leu36SerfsTer?
NM_004037.9:c.104dup NP_004028.4:p.Leu36SerfsTer?
NM_001257361.2:c.-89dup NP_001244290.1:n.-89dup
NM_139156.4:c.23dup NP_631895.1:p.Leu9SerfsTer?