Canonical Allele Identifier: CA419685099

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171423C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628801C>T , CM000663.2:g.109628801C>T	GRCh38
NC_000001.10:g.110171423C>T , CM000663.1:g.110171423C>T	GRCh37
NC_000001.9:g.109972946C>T	NCBI36
NG_034075.1:g.13989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1566C>T	ENSP00000256578.4:p.Arg522=
ENST00000358729.9:c.1566C>T	ENSP00000351573.5:p.Arg522=
ENST00000369840.7:c.1566C>T	ENSP00000358855.3:p.Arg522=
ENST00000474459.6:n.2185C>T
ENST00000476688.3:c.1248C>T	ENSP00000437025.2:p.Arg416=
ENST00000486282.7:n.2522C>T
ENST00000524975.2:n.2047C>T
ENST00000525415.2:n.2082C>T
ENST00000526301.6:n.1629C>T
ENST00000527846.7:n.1421C>T
ENST00000528667.7:c.1566C>T MANE Select	ENSP00000436541.2:p.Arg522=
ENST00000531203.6:c.1374C>T	ENSP00000431975.2:p.Arg458=
ENST00000531734.6:c.1485C>T	ENSP00000433739.2:p.Arg495=
ENST00000652975.2:c.*1318C>T	ENSP00000499620.2:n.*1318C>T
ENST00000654851.1:n.1408C>T
ENST00000655992.1:c.1374C>T	ENSP00000499740.1:p.Arg458=
ENST00000659122.2:c.1407+306C>T	ENSP00000499621.2:n.1407+306C>T
ENST00000663749.1:c.*1313C>T	ENSP00000499739.1:n.*1313C>T
ENST00000667949.2:c.966C>T	ENSP00000499465.2:p.Arg322=
ENST00000668421.1:c.*1507C>T	ENSP00000499362.1:n.*1507C>T
ENST00000679379.1:c.*1318C>T	ENSP00000505528.1:n.*1318C>T
ENST00000679593.1:c.1566C>T	ENSP00000505999.1:p.Arg522=
ENST00000679880.1:n.2102C>T
ENST00000679892.1:c.*1334C>T	ENSP00000504882.1:n.*1334C>T
ENST00000679981.1:c.*1580C>T	ENSP00000506422.1:n.*1580C>T
ENST00000680132.1:c.*1516C>T	ENSP00000505950.1:n.*1516C>T
ENST00000680148.1:c.*1318C>T	ENSP00000505994.1:n.*1318C>T
ENST00000680170.1:n.2431C>T
ENST00000680192.1:n.2524C>T
ENST00000680519.1:n.1802C>T
ENST00000680531.1:c.*1313C>T	ENSP00000506332.1:n.*1313C>T
ENST00000680820.1:c.*1318C>T	ENSP00000505735.1:n.*1318C>T
ENST00000680832.1:c.*1666C>T	ENSP00000505774.1:n.*1666C>T
ENST00000680929.1:c.*1255C>T	ENSP00000504916.1:n.*1255C>T
ENST00000681108.1:c.*1245+306C>T	ENSP00000506701.1:n.*1245+306C>T
ENST00000681121.1:c.*676C>T	ENSP00000506466.1:n.*676C>T
ENST00000681132.1:c.*1332C>T	ENSP00000506195.1:n.*1332C>T
ENST00000681181.1:c.*1551C>T	ENSP00000506038.1:n.*1551C>T
ENST00000681218.1:c.*1839C>T	ENSP00000505976.1:n.*1839C>T
ENST00000681246.1:c.*1222C>T	ENSP00000505534.1:n.*1222C>T
ENST00000681496.1:c.*1839C>T	ENSP00000505948.1:n.*1839C>T
ENST00000681834.1:n.1905C>T
ENST00000681862.1:c.*1692C>T	ENSP00000505537.1:n.*1692C>T
ENST00000256578.7:c.1728C>T	ENSP00000256578.3:p.Arg576=
ENST00000342115.8:c.1485C>T	ENSP00000345498.4:p.Arg495=
ENST00000358729.8:c.1503C>T	ENSP00000351573.4:p.Arg501=
ENST00000369840.6:c.1639C>T
ENST00000393688.7:c.1371C>T	ENSP00000377292.3:p.Arg457=
ENST00000467071.1:n.88C>T
ENST00000526301.5:n.1767C>T
ENST00000528454.5:c.1374C>T	ENSP00000437164.1:p.Arg458=
ENST00000528667.5:c.1728C>T	ENSP00000436541.1:p.Arg576=
ENST00000532851.1:n.276C>T
ENST00000533132.1:n.268C>T
NM_001257360.1:c.1728C>T	NP_001244289.1:p.Arg576=
NM_001257361.1:c.1374C>T	NP_001244290.1:p.Arg458=
NM_001308170.1:c.1503C>T	NP_001295099.1:p.Arg501=
NM_004037.7:c.1728C>T	NP_004028.3:p.Arg576=
NM_139156.3:c.1485C>T	NP_631895.1:p.Arg495=
NM_203404.1:c.1371C>T	NP_981949.1:p.Arg457=
XM_011541247.1:c.1941C>T	XP_011539549.1:p.Arg647=
XM_011541248.1:c.1782+306C>T	XP_011539550.1:n.1782+306C>T
XR_946607.1:n.1964C>T
XM_024446431.1:c.1503C>T	XP_024302199.1:p.Arg501=
XM_024446432.1:c.1430+306C>T	XP_024302200.1:n.1430+306C>T
XR_002956282.1:n.2139C>T
NM_001257360.2:c.1728C>T	NP_001244289.1:p.Arg576=
NM_001368809.2:c.1566C>T MANE Select	NP_001355738.1:p.Arg522=
NM_004037.9:c.1566C>T	NP_004028.4:p.Arg522=
NM_001257361.2:c.1374C>T	NP_001244290.1:p.Arg458=
NM_139156.4:c.1485C>T	NP_631895.1:p.Arg495=