Canonical Allele Identifier: CA419683784
Community Standard Title: NM_001368809.2(AMPD2):c.294C>T (p.Pro98=)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109625733C>T , CM000663.2:g.109625733C>T GRCh38
NC_000001.10:g.110168355C>T , CM000663.1:g.110168355C>T GRCh37
NC_000001.9:g.109969878C>T NCBI36
NG_034075.1:g.10921C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.294C>T MANE Select NP_001355738.1:p.Pro98=
ENST00000528667.7:c.294C>T MANE Select ENSP00000436541.2:p.Pro98=
NM_001257360.1:c.456C>T NP_001244289.1:p.Pro152=
NM_001257360.2:c.456C>T NP_001244289.1:p.Pro152=
NM_001257361.1:c.102C>T NP_001244290.1:p.Pro34=
NM_001257361.2:c.102C>T NP_001244290.1:p.Pro34=
NM_001308170.1:c.231C>T NP_001295099.1:p.Pro77=
NM_004037.7:c.456C>T NP_004028.3:p.Pro152=
NM_004037.9:c.294C>T NP_004028.4:p.Pro98=
NM_139156.3:c.213C>T NP_631895.1:p.Pro71=
NM_139156.4:c.213C>T NP_631895.1:p.Pro71=
NM_203404.1:c.99C>T NP_981949.1:p.Pro33=
ENST00000256578.7:c.456C>T ENSP00000256578.3:p.Pro152=
ENST00000256578.8:c.294C>T ENSP00000256578.4:p.Pro98=
ENST00000342115.8:c.213C>T ENSP00000345498.4:p.Pro71=
ENST00000358729.8:c.231C>T ENSP00000351573.4:p.Pro77=
ENST00000358729.9:c.294C>T ENSP00000351573.5:p.Pro98=
ENST00000369840.6:c.367C>T
ENST00000369840.7:c.294C>T ENSP00000358855.3:p.Pro98=
ENST00000393688.7:c.99C>T ENSP00000377292.3:p.Pro33=
ENST00000459643.2:n.323C>T
ENST00000474459.5:c.-307C>T ENSP00000432344.1:n.-307C>T
ENST00000474459.6:n.651C>T
ENST00000476688.3:c.36-427C>T ENSP00000437025.2:n.36-427C>T
ENST00000486282.6:n.224C>T
ENST00000486282.7:n.255C>T
ENST00000524975.2:n.254C>T
ENST00000525415.2:n.552C>T
ENST00000526301.5:n.495C>T
ENST00000526301.6:n.357C>T
ENST00000527846.5:c.357C>T ENSP00000431904.1:p.Pro119=
ENST00000527846.7:n.149C>T
ENST00000528270.5:c.487C>T ENSP00000434891.1:n.487C>T
ENST00000528270.6:c.*282C>T ENSP00000434891.2:n.*282C>T
ENST00000528454.5:c.102C>T ENSP00000437164.1:p.Pro34=
ENST00000528667.5:c.456C>T ENSP00000436541.1:p.Pro152=
ENST00000531203.5:c.102C>T ENSP00000431975.1:p.Pro34=
ENST00000531203.6:c.102C>T ENSP00000431975.2:p.Pro34=
ENST00000531734.5:c.213C>T ENSP00000433739.1:p.Pro71=
ENST00000531734.6:c.213C>T ENSP00000433739.2:p.Pro71=
ENST00000652975.2:c.*46C>T ENSP00000499620.2:n.*46C>T
ENST00000654851.1:n.136C>T
ENST00000655992.1:c.102C>T ENSP00000499740.1:p.Pro34=
ENST00000659122.2:c.294C>T ENSP00000499621.2:p.Pro98=
ENST00000663749.1:c.*46C>T ENSP00000499739.1:n.*46C>T
ENST00000667949.2:c.-307C>T ENSP00000499465.2:n.-307C>T
ENST00000668421.1:c.*235C>T ENSP00000499362.1:n.*235C>T
ENST00000679379.1:c.*46C>T ENSP00000505528.1:n.*46C>T
ENST00000679593.1:c.294C>T ENSP00000505999.1:p.Pro98=
ENST00000679880.1:n.552C>T
ENST00000679892.1:c.*46C>T ENSP00000504882.1:n.*46C>T
ENST00000679981.1:c.*46C>T ENSP00000506422.1:n.*46C>T
ENST00000680132.1:c.*46C>T ENSP00000505950.1:n.*46C>T
ENST00000680148.1:c.*46C>T ENSP00000505994.1:n.*46C>T
ENST00000680170.1:n.552C>T
ENST00000680192.1:n.645C>T
ENST00000680519.1:n.514C>T
ENST00000680531.1:c.*46C>T ENSP00000506332.1:n.*46C>T
ENST00000680820.1:c.*46C>T ENSP00000505735.1:n.*46C>T
ENST00000680832.1:c.*46C>T ENSP00000505774.1:n.*46C>T
ENST00000680929.1:c.*46C>T ENSP00000504916.1:n.*46C>T
ENST00000681108.1:c.*46C>T ENSP00000506701.1:n.*46C>T
ENST00000681121.1:c.102C>T ENSP00000506466.1:p.Pro34=
ENST00000681132.1:c.*46C>T ENSP00000506195.1:n.*46C>T
ENST00000681181.1:c.*46C>T ENSP00000506038.1:n.*46C>T
ENST00000681218.1:c.*46C>T ENSP00000505976.1:n.*46C>T
ENST00000681246.1:c.294C>T ENSP00000505534.1:p.Pro98=
ENST00000681496.1:c.*46C>T ENSP00000505948.1:n.*46C>T
ENST00000681834.1:n.371C>T
ENST00000681862.1:c.*46C>T ENSP00000505537.1:n.*46C>T
XM_011541247.1:c.669C>T XP_011539549.1:p.Pro223=
XM_011541248.1:c.669C>T XP_011539550.1:p.Pro223=
XM_024446431.1:c.231C>T XP_024302199.1:p.Pro77=
XM_024446432.1:c.231C>T XP_024302200.1:p.Pro77=
XR_002956282.1:n.867C>T
XR_946607.1:n.692C>T