Canonical Allele Identifier: CA992970
Community Standard Title: NM_001368809.2(AMPD2):c.948C>T (p.Pro316=)
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109627516C>T , CM000663.2:g.109627516C>T GRCh38
NC_000001.10:g.110170138C>T , CM000663.1:g.110170138C>T GRCh37
NC_000001.9:g.109971661C>T NCBI36
NG_034075.1:g.12704C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.948C>T MANE Select NP_001355738.1:p.Pro316=
ENST00000528667.7:c.948C>T MANE Select ENSP00000436541.2:p.Pro316=
NM_001257360.1:c.1110C>T NP_001244289.1:p.Pro370=
NM_001257360.2:c.1110C>T NP_001244289.1:p.Pro370=
NM_001257361.1:c.756C>T NP_001244290.1:p.Pro252=
NM_001257361.2:c.756C>T NP_001244290.1:p.Pro252=
NM_001308170.1:c.885C>T NP_001295099.1:p.Pro295=
NM_004037.7:c.1110C>T NP_004028.3:p.Pro370=
NM_004037.9:c.948C>T NP_004028.4:p.Pro316=
NM_139156.3:c.867C>T NP_631895.1:p.Pro289=
NM_139156.4:c.867C>T NP_631895.1:p.Pro289=
NM_203404.1:c.753C>T NP_981949.1:p.Pro251=
ENST00000256578.7:c.1110C>T ENSP00000256578.3:p.Pro370=
ENST00000256578.8:c.948C>T ENSP00000256578.4:p.Pro316=
ENST00000342115.8:c.867C>T ENSP00000345498.4:p.Pro289=
ENST00000358729.8:c.885C>T ENSP00000351573.4:p.Pro295=
ENST00000358729.9:c.948C>T ENSP00000351573.5:p.Pro316=
ENST00000369840.6:c.1021C>T
ENST00000369840.7:c.948C>T ENSP00000358855.3:p.Pro316=
ENST00000393688.7:c.753C>T ENSP00000377292.3:p.Pro251=
ENST00000474459.6:n.1567C>T
ENST00000476688.3:c.630C>T ENSP00000437025.2:p.Pro210=
ENST00000486282.7:n.1671C>T
ENST00000524975.1:n.594C>T
ENST00000524975.2:n.1282C>T
ENST00000525415.2:n.1468C>T
ENST00000526301.5:n.1149C>T
ENST00000526301.6:n.1011C>T
ENST00000527846.7:n.803C>T
ENST00000528454.5:c.756C>T ENSP00000437164.1:p.Pro252=
ENST00000528667.5:c.1110C>T ENSP00000436541.1:p.Pro370=
ENST00000531203.6:c.756C>T ENSP00000431975.2:p.Pro252=
ENST00000531734.6:c.867C>T ENSP00000433739.2:p.Pro289=
ENST00000652975.2:c.*700C>T ENSP00000499620.2:n.*700C>T
ENST00000654851.1:n.790C>T
ENST00000655992.1:c.756C>T ENSP00000499740.1:p.Pro252=
ENST00000659122.2:c.948C>T ENSP00000499621.2:p.Pro316=
ENST00000663749.1:c.*700C>T ENSP00000499739.1:n.*700C>T
ENST00000667949.2:c.348C>T ENSP00000499465.2:p.Pro116=
ENST00000668421.1:c.*889C>T ENSP00000499362.1:n.*889C>T
ENST00000679379.1:c.*700C>T ENSP00000505528.1:n.*700C>T
ENST00000679593.1:c.948C>T ENSP00000505999.1:p.Pro316=
ENST00000679880.1:n.1468C>T
ENST00000679892.1:c.*716C>T ENSP00000504882.1:n.*716C>T
ENST00000679981.1:c.*962C>T ENSP00000506422.1:n.*962C>T
ENST00000680132.1:c.*812C>T ENSP00000505950.1:n.*812C>T
ENST00000680148.1:c.*700C>T ENSP00000505994.1:n.*700C>T
ENST00000680170.1:n.1580C>T
ENST00000680192.1:n.1673C>T
ENST00000680519.1:n.1184C>T
ENST00000680531.1:c.*700C>T ENSP00000506332.1:n.*700C>T
ENST00000680820.1:c.*700C>T ENSP00000505735.1:n.*700C>T
ENST00000680832.1:c.*962C>T ENSP00000505774.1:n.*962C>T
ENST00000680929.1:c.*700C>T ENSP00000504916.1:n.*700C>T
ENST00000681108.1:c.*700C>T ENSP00000506701.1:n.*700C>T
ENST00000681121.1:c.*58C>T ENSP00000506466.1:n.*58C>T
ENST00000681132.1:c.*714C>T ENSP00000506195.1:n.*714C>T
ENST00000681181.1:c.*700C>T ENSP00000506038.1:n.*700C>T
ENST00000681218.1:c.*1074C>T ENSP00000505976.1:n.*1074C>T
ENST00000681246.1:c.*604C>T ENSP00000505534.1:n.*604C>T
ENST00000681496.1:c.*1074C>T ENSP00000505948.1:n.*1074C>T
ENST00000681834.1:n.1287C>T
ENST00000681862.1:c.*1074C>T ENSP00000505537.1:n.*1074C>T
XM_011541247.1:c.1323C>T XP_011539549.1:p.Pro441=
XM_011541248.1:c.1323C>T XP_011539550.1:p.Pro441=
XM_024446431.1:c.885C>T XP_024302199.1:p.Pro295=
XM_024446432.1:c.885C>T XP_024302200.1:p.Pro295=
XR_002956282.1:n.1521C>T
XR_946607.1:n.1346C>T