Canonical Allele Identifier: CA156215

Gene: AMPD2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109627453C>A , CM000663.2:g.109627453C>A	GRCh38
NC_000001.10:g.110170075C>A , CM000663.1:g.110170075C>A	GRCh37
NC_000001.9:g.109971598C>A	NCBI36
NG_034075.1:g.12641C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.885C>A	ENSP00000256578.4:p.Tyr295Ter
ENST00000358729.9:c.885C>A	ENSP00000351573.5:p.Tyr295Ter
ENST00000369840.7:c.885C>A	ENSP00000358855.3:p.Tyr295Ter
ENST00000474459.6:n.1504C>A
ENST00000476688.3:c.567C>A	ENSP00000437025.2:p.Tyr189Ter
ENST00000486282.7:n.1608C>A
ENST00000524975.2:n.1219C>A
ENST00000525415.2:n.1405C>A
ENST00000526301.6:n.948C>A
ENST00000527846.7:n.740C>A
ENST00000528667.7:c.885C>A MANE Select	ENSP00000436541.2:p.Tyr295Ter
ENST00000531203.6:c.693C>A	ENSP00000431975.2:p.Tyr231Ter
ENST00000531734.6:c.804C>A	ENSP00000433739.2:p.Tyr268Ter
ENST00000652975.2:c.*637C>A	ENSP00000499620.2:n.*637C>A
ENST00000654851.1:n.727C>A
ENST00000655992.1:c.693C>A	ENSP00000499740.1:p.Tyr231Ter
ENST00000659122.2:c.885C>A	ENSP00000499621.2:p.Tyr295Ter
ENST00000663749.1:c.*637C>A	ENSP00000499739.1:n.*637C>A
ENST00000667949.2:c.285C>A	ENSP00000499465.2:p.Tyr95Ter
ENST00000668421.1:c.*826C>A	ENSP00000499362.1:n.*826C>A
ENST00000679379.1:c.*637C>A	ENSP00000505528.1:n.*637C>A
ENST00000679593.1:c.885C>A	ENSP00000505999.1:p.Tyr295Ter
ENST00000679880.1:n.1405C>A
ENST00000679892.1:c.*653C>A	ENSP00000504882.1:n.*653C>A
ENST00000679981.1:c.*899C>A	ENSP00000506422.1:n.*899C>A
ENST00000680132.1:c.*749C>A	ENSP00000505950.1:n.*749C>A
ENST00000680148.1:c.*637C>A	ENSP00000505994.1:n.*637C>A
ENST00000680170.1:n.1517C>A
ENST00000680192.1:n.1610C>A
ENST00000680519.1:n.1121C>A
ENST00000680531.1:c.*637C>A	ENSP00000506332.1:n.*637C>A
ENST00000680820.1:c.*637C>A	ENSP00000505735.1:n.*637C>A
ENST00000680832.1:c.*899C>A	ENSP00000505774.1:n.*899C>A
ENST00000680929.1:c.*637C>A	ENSP00000504916.1:n.*637C>A
ENST00000681108.1:c.*637C>A	ENSP00000506701.1:n.*637C>A
ENST00000681121.1:c.709C>A	ENSP00000506466.1:p.Pro237Thr
ENST00000681132.1:c.*651C>A	ENSP00000506195.1:n.*651C>A
ENST00000681181.1:c.*637C>A	ENSP00000506038.1:n.*637C>A
ENST00000681218.1:c.*1011C>A	ENSP00000505976.1:n.*1011C>A
ENST00000681246.1:c.*541C>A	ENSP00000505534.1:n.*541C>A
ENST00000681496.1:c.*1011C>A	ENSP00000505948.1:n.*1011C>A
ENST00000681834.1:n.1224C>A
ENST00000681862.1:c.*1011C>A	ENSP00000505537.1:n.*1011C>A
ENST00000256578.7:c.1047C>A	ENSP00000256578.3:p.Tyr349Ter
ENST00000342115.8:c.804C>A	ENSP00000345498.4:p.Tyr268Ter
ENST00000358729.8:c.822C>A	ENSP00000351573.4:p.Tyr274Ter
ENST00000369840.6:c.958C>A
ENST00000393688.7:c.690C>A	ENSP00000377292.3:p.Tyr230Ter
ENST00000524975.1:n.531C>A
ENST00000526301.5:n.1086C>A
ENST00000528454.5:c.693C>A	ENSP00000437164.1:p.Tyr231Ter
ENST00000528667.5:c.1047C>A	ENSP00000436541.1:p.Tyr349Ter
NM_001257360.1:c.1047C>A	NP_001244289.1:p.Tyr349Ter
NM_001257361.1:c.693C>A	NP_001244290.1:p.Tyr231Ter
NM_001308170.1:c.822C>A	NP_001295099.1:p.Tyr274Ter
NM_004037.7:c.1047C>A	NP_004028.3:p.Tyr349Ter
NM_139156.3:c.804C>A	NP_631895.1:p.Tyr268Ter
NM_203404.1:c.690C>A	NP_981949.1:p.Tyr230Ter
XM_011541247.1:c.1260C>A	XP_011539549.1:p.Tyr420Ter
XM_011541248.1:c.1260C>A	XP_011539550.1:p.Tyr420Ter
XR_946607.1:n.1283C>A
XM_024446431.1:c.822C>A	XP_024302199.1:p.Tyr274Ter
XM_024446432.1:c.822C>A	XP_024302200.1:p.Tyr274Ter
XR_002956282.1:n.1458C>A
NM_001257360.2:c.1047C>A	NP_001244289.1:p.Tyr349Ter
NM_001368809.2:c.885C>A MANE Select	NP_001355738.1:p.Tyr295Ter
NM_004037.9:c.885C>A	NP_004028.4:p.Tyr295Ter
NM_001257361.2:c.693C>A	NP_001244290.1:p.Tyr231Ter
NM_139156.4:c.804C>A	NP_631895.1:p.Tyr268Ter