Canonical Allele Identifier: CA2646968498
Community Standard Title: NM_001368809.2(AMPD2):c.950+19C>A
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109627537C>A , CM000663.2:g.109627537C>A GRCh38
NC_000001.10:g.110170159C>A , CM000663.1:g.110170159C>A GRCh37
NC_000001.9:g.109971682C>A NCBI36
NG_034075.1:g.12725C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.950+19C>A MANE Select NP_001355738.1:n.950+19C>A
ENST00000528667.7:c.950+19C>A MANE Select ENSP00000436541.2:n.950+19C>A
NM_001257360.1:c.1112+19C>A NP_001244289.1:n.1112+19C>A
NM_001257360.2:c.1112+19C>A NP_001244289.1:n.1112+19C>A
NM_001257361.1:c.758+19C>A NP_001244290.1:n.758+19C>A
NM_001257361.2:c.758+19C>A NP_001244290.1:n.758+19C>A
NM_001308170.1:c.887+19C>A NP_001295099.1:n.887+19C>A
NM_004037.7:c.1112+19C>A NP_004028.3:n.1112+19C>A
NM_004037.9:c.950+19C>A NP_004028.4:n.950+19C>A
NM_139156.3:c.869+19C>A NP_631895.1:n.869+19C>A
NM_139156.4:c.869+19C>A NP_631895.1:n.869+19C>A
NM_203404.1:c.755+19C>A NP_981949.1:n.755+19C>A
ENST00000256578.7:c.1112+19C>A ENSP00000256578.3:n.1112+19C>A
ENST00000256578.8:c.950+19C>A ENSP00000256578.4:n.950+19C>A
ENST00000342115.8:c.869+19C>A ENSP00000345498.4:n.869+19C>A
ENST00000358729.8:c.887+19C>A ENSP00000351573.4:n.887+19C>A
ENST00000358729.9:c.950+19C>A ENSP00000351573.5:n.950+19C>A
ENST00000369840.6:c.1023+19C>A
ENST00000369840.7:c.950+19C>A ENSP00000358855.3:n.950+19C>A
ENST00000393688.7:c.755+19C>A ENSP00000377292.3:n.755+19C>A
ENST00000474459.6:n.1569+19C>A
ENST00000476688.3:c.632+19C>A ENSP00000437025.2:n.632+19C>A
ENST00000486282.7:n.1673+19C>A
ENST00000524975.1:n.596+19C>A
ENST00000524975.2:n.1284+19C>A
ENST00000525415.2:n.1470+19C>A
ENST00000526301.5:n.1151+19C>A
ENST00000526301.6:n.1013+19C>A
ENST00000527846.7:n.805+19C>A
ENST00000528454.5:c.758+19C>A ENSP00000437164.1:n.758+19C>A
ENST00000528667.5:c.1112+19C>A ENSP00000436541.1:n.1112+19C>A
ENST00000531203.6:c.758+19C>A ENSP00000431975.2:n.758+19C>A
ENST00000531734.6:c.869+19C>A ENSP00000433739.2:n.869+19C>A
ENST00000652975.2:c.*702+19C>A ENSP00000499620.2:n.*702+19C>A
ENST00000654851.1:n.792+19C>A
ENST00000655992.1:c.758+19C>A ENSP00000499740.1:n.758+19C>A
ENST00000659122.2:c.950+19C>A ENSP00000499621.2:n.950+19C>A
ENST00000663749.1:c.*702+19C>A ENSP00000499739.1:n.*702+19C>A
ENST00000667949.2:c.350+19C>A ENSP00000499465.2:n.350+19C>A
ENST00000668421.1:c.*891+19C>A ENSP00000499362.1:n.*891+19C>A
ENST00000679379.1:c.*702+19C>A ENSP00000505528.1:n.*702+19C>A
ENST00000679593.1:c.950+19C>A ENSP00000505999.1:n.950+19C>A
ENST00000679880.1:n.1470+19C>A
ENST00000679892.1:c.*718+19C>A ENSP00000504882.1:n.*718+19C>A
ENST00000679981.1:c.*964+19C>A ENSP00000506422.1:n.*964+19C>A
ENST00000680132.1:c.*814+19C>A ENSP00000505950.1:n.*814+19C>A
ENST00000680148.1:c.*702+19C>A ENSP00000505994.1:n.*702+19C>A
ENST00000680170.1:n.1582+19C>A
ENST00000680192.1:n.1675+19C>A
ENST00000680519.1:n.1186+19C>A
ENST00000680531.1:c.*702+19C>A ENSP00000506332.1:n.*702+19C>A
ENST00000680820.1:c.*702+19C>A ENSP00000505735.1:n.*702+19C>A
ENST00000680832.1:c.*964+19C>A ENSP00000505774.1:n.*964+19C>A
ENST00000680929.1:c.*702+19C>A ENSP00000504916.1:n.*702+19C>A
ENST00000681108.1:c.*702+19C>A ENSP00000506701.1:n.*702+19C>A
ENST00000681121.1:c.*60+19C>A ENSP00000506466.1:n.*60+19C>A
ENST00000681132.1:c.*716+19C>A ENSP00000506195.1:n.*716+19C>A
ENST00000681181.1:c.*702+19C>A ENSP00000506038.1:n.*702+19C>A
ENST00000681218.1:c.*1076+19C>A ENSP00000505976.1:n.*1076+19C>A
ENST00000681246.1:c.*606+19C>A ENSP00000505534.1:n.*606+19C>A
ENST00000681496.1:c.*1076+19C>A ENSP00000505948.1:n.*1076+19C>A
ENST00000681834.1:n.1289+19C>A
ENST00000681862.1:c.*1076+19C>A ENSP00000505537.1:n.*1076+19C>A
XM_011541247.1:c.1325+19C>A XP_011539549.1:n.1325+19C>A
XM_011541248.1:c.1325+19C>A XP_011539550.1:n.1325+19C>A
XM_024446431.1:c.887+19C>A XP_024302199.1:n.887+19C>A
XM_024446432.1:c.887+19C>A XP_024302200.1:n.887+19C>A
XR_002956282.1:n.1523+19C>A
XR_946607.1:n.1348+19C>A