Canonical Allele Identifier: CA419684875

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171306A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628684A>G , CM000663.2:g.109628684A>G	GRCh38
NC_000001.10:g.110171306A>G , CM000663.1:g.110171306A>G	GRCh37
NC_000001.9:g.109972829A>G	NCBI36
NG_034075.1:g.13872A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1449A>G	ENSP00000256578.4:p.Ala483=
ENST00000358729.9:c.1449A>G	ENSP00000351573.5:p.Ala483=
ENST00000369840.7:c.1449A>G	ENSP00000358855.3:p.Ala483=
ENST00000474459.6:n.2068A>G
ENST00000476688.3:c.1131A>G	ENSP00000437025.2:p.Ala377=
ENST00000486282.7:n.2405A>G
ENST00000524975.2:n.1930A>G
ENST00000525415.2:n.1965A>G
ENST00000526301.6:n.1512A>G
ENST00000527846.7:n.1304A>G
ENST00000528667.7:c.1449A>G MANE Select	ENSP00000436541.2:p.Ala483=
ENST00000531203.6:c.1257A>G	ENSP00000431975.2:p.Ala419=
ENST00000531734.6:c.1368A>G	ENSP00000433739.2:p.Ala456=
ENST00000652975.2:c.*1201A>G	ENSP00000499620.2:n.*1201A>G
ENST00000654851.1:n.1291A>G
ENST00000655992.1:c.1257A>G	ENSP00000499740.1:p.Ala419=
ENST00000659122.2:c.1407+189A>G	ENSP00000499621.2:n.1407+189A>G
ENST00000663749.1:c.*1196A>G	ENSP00000499739.1:n.*1196A>G
ENST00000667949.2:c.849A>G	ENSP00000499465.2:p.Ala283=
ENST00000668421.1:c.*1390A>G	ENSP00000499362.1:n.*1390A>G
ENST00000679379.1:c.*1201A>G	ENSP00000505528.1:n.*1201A>G
ENST00000679593.1:c.1449A>G	ENSP00000505999.1:p.Ala483=
ENST00000679880.1:n.1985A>G
ENST00000679892.1:c.*1217A>G	ENSP00000504882.1:n.*1217A>G
ENST00000679981.1:c.*1463A>G	ENSP00000506422.1:n.*1463A>G
ENST00000680132.1:c.*1399A>G	ENSP00000505950.1:n.*1399A>G
ENST00000680148.1:c.*1201A>G	ENSP00000505994.1:n.*1201A>G
ENST00000680170.1:n.2314A>G
ENST00000680192.1:n.2407A>G
ENST00000680519.1:n.1685A>G
ENST00000680531.1:c.*1196A>G	ENSP00000506332.1:n.*1196A>G
ENST00000680820.1:c.*1201A>G	ENSP00000505735.1:n.*1201A>G
ENST00000680832.1:c.*1549A>G	ENSP00000505774.1:n.*1549A>G
ENST00000680929.1:c.*1138A>G	ENSP00000504916.1:n.*1138A>G
ENST00000681108.1:c.*1245+189A>G	ENSP00000506701.1:n.*1245+189A>G
ENST00000681121.1:c.*559A>G	ENSP00000506466.1:n.*559A>G
ENST00000681132.1:c.*1215A>G	ENSP00000506195.1:n.*1215A>G
ENST00000681181.1:c.*1434A>G	ENSP00000506038.1:n.*1434A>G
ENST00000681218.1:c.*1722A>G	ENSP00000505976.1:n.*1722A>G
ENST00000681246.1:c.*1105A>G	ENSP00000505534.1:n.*1105A>G
ENST00000681496.1:c.*1722A>G	ENSP00000505948.1:n.*1722A>G
ENST00000681834.1:n.1788A>G
ENST00000681862.1:c.*1575A>G	ENSP00000505537.1:n.*1575A>G
ENST00000256578.7:c.1611A>G	ENSP00000256578.3:p.Ala537=
ENST00000342115.8:c.1368A>G	ENSP00000345498.4:p.Ala456=
ENST00000358729.8:c.1386A>G	ENSP00000351573.4:p.Ala462=
ENST00000369840.6:c.1522A>G
ENST00000393688.7:c.1254A>G	ENSP00000377292.3:p.Ala418=
ENST00000526301.5:n.1650A>G
ENST00000528454.5:c.1257A>G	ENSP00000437164.1:p.Ala419=
ENST00000528667.5:c.1611A>G	ENSP00000436541.1:p.Ala537=
ENST00000532851.1:n.159A>G
ENST00000533132.1:n.151A>G
NM_001257360.1:c.1611A>G	NP_001244289.1:p.Ala537=
NM_001257361.1:c.1257A>G	NP_001244290.1:p.Ala419=
NM_001308170.1:c.1386A>G	NP_001295099.1:p.Ala462=
NM_004037.7:c.1611A>G	NP_004028.3:p.Ala537=
NM_139156.3:c.1368A>G	NP_631895.1:p.Ala456=
NM_203404.1:c.1254A>G	NP_981949.1:p.Ala418=
XM_011541247.1:c.1824A>G	XP_011539549.1:p.Ala608=
XM_011541248.1:c.1782+189A>G	XP_011539550.1:n.1782+189A>G
XR_946607.1:n.1847A>G
XM_024446431.1:c.1386A>G	XP_024302199.1:p.Ala462=
XM_024446432.1:c.1430+189A>G	XP_024302200.1:n.1430+189A>G
XR_002956282.1:n.2022A>G
NM_001257360.2:c.1611A>G	NP_001244289.1:p.Ala537=
NM_001368809.2:c.1449A>G MANE Select	NP_001355738.1:p.Ala483=
NM_004037.9:c.1449A>G	NP_004028.4:p.Ala483=
NM_001257361.2:c.1257A>G	NP_001244290.1:p.Ala419=
NM_139156.4:c.1368A>G	NP_631895.1:p.Ala456=