Canonical Allele Identifier: CA341559003

Gene: AMPD2

Linked Data

• gnomAD v4: 1-109628674-A-G
• MyVariant Identifiers: chr1:g.110171296A>G (hg19) ; chr1:g.109628674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628674A>G , CM000663.2:g.109628674A>G	GRCh38
NC_000001.10:g.110171296A>G , CM000663.1:g.110171296A>G	GRCh37
NC_000001.9:g.109972819A>G	NCBI36
NG_034075.1:g.13862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1439A>G	ENSP00000256578.4:p.Tyr480Cys
ENST00000358729.9:c.1439A>G	ENSP00000351573.5:p.Tyr480Cys
ENST00000369840.7:c.1439A>G	ENSP00000358855.3:p.Tyr480Cys
ENST00000474459.6:n.2058A>G
ENST00000476688.3:c.1121A>G	ENSP00000437025.2:p.Tyr374Cys
ENST00000486282.7:n.2395A>G
ENST00000524975.2:n.1920A>G
ENST00000525415.2:n.1955A>G
ENST00000526301.6:n.1502A>G
ENST00000527846.7:n.1294A>G
ENST00000528667.7:c.1439A>G MANE Select	ENSP00000436541.2:p.Tyr480Cys
ENST00000531203.6:c.1247A>G	ENSP00000431975.2:p.Tyr416Cys
ENST00000531734.6:c.1358A>G	ENSP00000433739.2:p.Tyr453Cys
ENST00000652975.2:c.*1191A>G	ENSP00000499620.2:n.*1191A>G
ENST00000654851.1:n.1281A>G
ENST00000655992.1:c.1247A>G	ENSP00000499740.1:p.Tyr416Cys
ENST00000659122.2:c.1407+179A>G	ENSP00000499621.2:n.1407+179A>G
ENST00000663749.1:c.*1186A>G	ENSP00000499739.1:n.*1186A>G
ENST00000667949.2:c.839A>G	ENSP00000499465.2:p.Tyr280Cys
ENST00000668421.1:c.*1380A>G	ENSP00000499362.1:n.*1380A>G
ENST00000679379.1:c.*1191A>G	ENSP00000505528.1:n.*1191A>G
ENST00000679593.1:c.1439A>G	ENSP00000505999.1:p.Tyr480Cys
ENST00000679880.1:n.1975A>G
ENST00000679892.1:c.*1207A>G	ENSP00000504882.1:n.*1207A>G
ENST00000679981.1:c.*1453A>G	ENSP00000506422.1:n.*1453A>G
ENST00000680132.1:c.*1389A>G	ENSP00000505950.1:n.*1389A>G
ENST00000680148.1:c.*1191A>G	ENSP00000505994.1:n.*1191A>G
ENST00000680170.1:n.2304A>G
ENST00000680192.1:n.2397A>G
ENST00000680519.1:n.1675A>G
ENST00000680531.1:c.*1186A>G	ENSP00000506332.1:n.*1186A>G
ENST00000680820.1:c.*1191A>G	ENSP00000505735.1:n.*1191A>G
ENST00000680832.1:c.*1539A>G	ENSP00000505774.1:n.*1539A>G
ENST00000680929.1:c.*1128A>G	ENSP00000504916.1:n.*1128A>G
ENST00000681108.1:c.*1245+179A>G	ENSP00000506701.1:n.*1245+179A>G
ENST00000681121.1:c.*549A>G	ENSP00000506466.1:n.*549A>G
ENST00000681132.1:c.*1205A>G	ENSP00000506195.1:n.*1205A>G
ENST00000681181.1:c.*1424A>G	ENSP00000506038.1:n.*1424A>G
ENST00000681218.1:c.*1712A>G	ENSP00000505976.1:n.*1712A>G
ENST00000681246.1:c.*1095A>G	ENSP00000505534.1:n.*1095A>G
ENST00000681496.1:c.*1712A>G	ENSP00000505948.1:n.*1712A>G
ENST00000681834.1:n.1778A>G
ENST00000681862.1:c.*1565A>G	ENSP00000505537.1:n.*1565A>G
ENST00000256578.7:c.1601A>G	ENSP00000256578.3:p.Tyr534Cys
ENST00000342115.8:c.1358A>G	ENSP00000345498.4:p.Tyr453Cys
ENST00000358729.8:c.1376A>G	ENSP00000351573.4:p.Tyr459Cys
ENST00000369840.6:c.1512A>G
ENST00000393688.7:c.1244A>G	ENSP00000377292.3:p.Tyr415Cys
ENST00000526301.5:n.1640A>G
ENST00000528454.5:c.1247A>G	ENSP00000437164.1:p.Tyr416Cys
ENST00000528667.5:c.1601A>G	ENSP00000436541.1:p.Tyr534Cys
ENST00000532851.1:n.149A>G
ENST00000533132.1:n.141A>G
NM_001257360.1:c.1601A>G	NP_001244289.1:p.Tyr534Cys
NM_001257361.1:c.1247A>G	NP_001244290.1:p.Tyr416Cys
NM_001308170.1:c.1376A>G	NP_001295099.1:p.Tyr459Cys
NM_004037.7:c.1601A>G	NP_004028.3:p.Tyr534Cys
NM_139156.3:c.1358A>G	NP_631895.1:p.Tyr453Cys
NM_203404.1:c.1244A>G	NP_981949.1:p.Tyr415Cys
XM_011541247.1:c.1814A>G	XP_011539549.1:p.Tyr605Cys
XM_011541248.1:c.1782+179A>G	XP_011539550.1:n.1782+179A>G
XR_946607.1:n.1837A>G
XM_024446431.1:c.1376A>G	XP_024302199.1:p.Tyr459Cys
XM_024446432.1:c.1430+179A>G	XP_024302200.1:n.1430+179A>G
XR_002956282.1:n.2012A>G
NM_001257360.2:c.1601A>G	NP_001244289.1:p.Tyr534Cys
NM_001368809.2:c.1439A>G MANE Select	NP_001355738.1:p.Tyr480Cys
NM_004037.9:c.1439A>G	NP_004028.4:p.Tyr480Cys
NM_001257361.2:c.1247A>G	NP_001244290.1:p.Tyr416Cys
NM_139156.4:c.1358A>G	NP_631895.1:p.Tyr453Cys