Canonical Allele Identifier: CA419684903

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171318C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628696C>G , CM000663.2:g.109628696C>G	GRCh38
NC_000001.10:g.110171318C>G , CM000663.1:g.110171318C>G	GRCh37
NC_000001.9:g.109972841C>G	NCBI36
NG_034075.1:g.13884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1461C>G	ENSP00000256578.4:p.Leu487=
ENST00000358729.9:c.1461C>G	ENSP00000351573.5:p.Leu487=
ENST00000369840.7:c.1461C>G	ENSP00000358855.3:p.Leu487=
ENST00000474459.6:n.2080C>G
ENST00000476688.3:c.1143C>G	ENSP00000437025.2:p.Leu381=
ENST00000486282.7:n.2417C>G
ENST00000524975.2:n.1942C>G
ENST00000525415.2:n.1977C>G
ENST00000526301.6:n.1524C>G
ENST00000527846.7:n.1316C>G
ENST00000528667.7:c.1461C>G MANE Select	ENSP00000436541.2:p.Leu487=
ENST00000531203.6:c.1269C>G	ENSP00000431975.2:p.Leu423=
ENST00000531734.6:c.1380C>G	ENSP00000433739.2:p.Leu460=
ENST00000652975.2:c.*1213C>G	ENSP00000499620.2:n.*1213C>G
ENST00000654851.1:n.1303C>G
ENST00000655992.1:c.1269C>G	ENSP00000499740.1:p.Leu423=
ENST00000659122.2:c.1407+201C>G	ENSP00000499621.2:n.1407+201C>G
ENST00000663749.1:c.*1208C>G	ENSP00000499739.1:n.*1208C>G
ENST00000667949.2:c.861C>G	ENSP00000499465.2:p.Leu287=
ENST00000668421.1:c.*1402C>G	ENSP00000499362.1:n.*1402C>G
ENST00000679379.1:c.*1213C>G	ENSP00000505528.1:n.*1213C>G
ENST00000679593.1:c.1461C>G	ENSP00000505999.1:p.Leu487=
ENST00000679880.1:n.1997C>G
ENST00000679892.1:c.*1229C>G	ENSP00000504882.1:n.*1229C>G
ENST00000679981.1:c.*1475C>G	ENSP00000506422.1:n.*1475C>G
ENST00000680132.1:c.*1411C>G	ENSP00000505950.1:n.*1411C>G
ENST00000680148.1:c.*1213C>G	ENSP00000505994.1:n.*1213C>G
ENST00000680170.1:n.2326C>G
ENST00000680192.1:n.2419C>G
ENST00000680519.1:n.1697C>G
ENST00000680531.1:c.*1208C>G	ENSP00000506332.1:n.*1208C>G
ENST00000680820.1:c.*1213C>G	ENSP00000505735.1:n.*1213C>G
ENST00000680832.1:c.*1561C>G	ENSP00000505774.1:n.*1561C>G
ENST00000680929.1:c.*1150C>G	ENSP00000504916.1:n.*1150C>G
ENST00000681108.1:c.*1245+201C>G	ENSP00000506701.1:n.*1245+201C>G
ENST00000681121.1:c.*571C>G	ENSP00000506466.1:n.*571C>G
ENST00000681132.1:c.*1227C>G	ENSP00000506195.1:n.*1227C>G
ENST00000681181.1:c.*1446C>G	ENSP00000506038.1:n.*1446C>G
ENST00000681218.1:c.*1734C>G	ENSP00000505976.1:n.*1734C>G
ENST00000681246.1:c.*1117C>G	ENSP00000505534.1:n.*1117C>G
ENST00000681496.1:c.*1734C>G	ENSP00000505948.1:n.*1734C>G
ENST00000681834.1:n.1800C>G
ENST00000681862.1:c.*1587C>G	ENSP00000505537.1:n.*1587C>G
ENST00000256578.7:c.1623C>G	ENSP00000256578.3:p.Leu541=
ENST00000342115.8:c.1380C>G	ENSP00000345498.4:p.Leu460=
ENST00000358729.8:c.1398C>G	ENSP00000351573.4:p.Leu466=
ENST00000369840.6:c.1534C>G
ENST00000393688.7:c.1266C>G	ENSP00000377292.3:p.Leu422=
ENST00000526301.5:n.1662C>G
ENST00000528454.5:c.1269C>G	ENSP00000437164.1:p.Leu423=
ENST00000528667.5:c.1623C>G	ENSP00000436541.1:p.Leu541=
ENST00000532851.1:n.171C>G
ENST00000533132.1:n.163C>G
NM_001257360.1:c.1623C>G	NP_001244289.1:p.Leu541=
NM_001257361.1:c.1269C>G	NP_001244290.1:p.Leu423=
NM_001308170.1:c.1398C>G	NP_001295099.1:p.Leu466=
NM_004037.7:c.1623C>G	NP_004028.3:p.Leu541=
NM_139156.3:c.1380C>G	NP_631895.1:p.Leu460=
NM_203404.1:c.1266C>G	NP_981949.1:p.Leu422=
XM_011541247.1:c.1836C>G	XP_011539549.1:p.Leu612=
XM_011541248.1:c.1782+201C>G	XP_011539550.1:n.1782+201C>G
XR_946607.1:n.1859C>G
XM_024446431.1:c.1398C>G	XP_024302199.1:p.Leu466=
XM_024446432.1:c.1430+201C>G	XP_024302200.1:n.1430+201C>G
XR_002956282.1:n.2034C>G
NM_001257360.2:c.1623C>G	NP_001244289.1:p.Leu541=
NM_001368809.2:c.1461C>G MANE Select	NP_001355738.1:p.Leu487=
NM_004037.9:c.1461C>G	NP_004028.4:p.Leu487=
NM_001257361.2:c.1269C>G	NP_001244290.1:p.Leu423=
NM_139156.4:c.1380C>G	NP_631895.1:p.Leu460=