Canonical Allele Identifier: CA341559019

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171302A>G (hg19) ; chr1:g.109628680A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628680A>G , CM000663.2:g.109628680A>G	GRCh38
NC_000001.10:g.110171302A>G , CM000663.1:g.110171302A>G	GRCh37
NC_000001.9:g.109972825A>G	NCBI36
NG_034075.1:g.13868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1445A>G	ENSP00000256578.4:p.Asn482Ser
ENST00000358729.9:c.1445A>G	ENSP00000351573.5:p.Asn482Ser
ENST00000369840.7:c.1445A>G	ENSP00000358855.3:p.Asn482Ser
ENST00000474459.6:n.2064A>G
ENST00000476688.3:c.1127A>G	ENSP00000437025.2:p.Asn376Ser
ENST00000486282.7:n.2401A>G
ENST00000524975.2:n.1926A>G
ENST00000525415.2:n.1961A>G
ENST00000526301.6:n.1508A>G
ENST00000527846.7:n.1300A>G
ENST00000528667.7:c.1445A>G MANE Select	ENSP00000436541.2:p.Asn482Ser
ENST00000531203.6:c.1253A>G	ENSP00000431975.2:p.Asn418Ser
ENST00000531734.6:c.1364A>G	ENSP00000433739.2:p.Asn455Ser
ENST00000652975.2:c.*1197A>G	ENSP00000499620.2:n.*1197A>G
ENST00000654851.1:n.1287A>G
ENST00000655992.1:c.1253A>G	ENSP00000499740.1:p.Asn418Ser
ENST00000659122.2:c.1407+185A>G	ENSP00000499621.2:n.1407+185A>G
ENST00000663749.1:c.*1192A>G	ENSP00000499739.1:n.*1192A>G
ENST00000667949.2:c.845A>G	ENSP00000499465.2:p.Asn282Ser
ENST00000668421.1:c.*1386A>G	ENSP00000499362.1:n.*1386A>G
ENST00000679379.1:c.*1197A>G	ENSP00000505528.1:n.*1197A>G
ENST00000679593.1:c.1445A>G	ENSP00000505999.1:p.Asn482Ser
ENST00000679880.1:n.1981A>G
ENST00000679892.1:c.*1213A>G	ENSP00000504882.1:n.*1213A>G
ENST00000679981.1:c.*1459A>G	ENSP00000506422.1:n.*1459A>G
ENST00000680132.1:c.*1395A>G	ENSP00000505950.1:n.*1395A>G
ENST00000680148.1:c.*1197A>G	ENSP00000505994.1:n.*1197A>G
ENST00000680170.1:n.2310A>G
ENST00000680192.1:n.2403A>G
ENST00000680519.1:n.1681A>G
ENST00000680531.1:c.*1192A>G	ENSP00000506332.1:n.*1192A>G
ENST00000680820.1:c.*1197A>G	ENSP00000505735.1:n.*1197A>G
ENST00000680832.1:c.*1545A>G	ENSP00000505774.1:n.*1545A>G
ENST00000680929.1:c.*1134A>G	ENSP00000504916.1:n.*1134A>G
ENST00000681108.1:c.*1245+185A>G	ENSP00000506701.1:n.*1245+185A>G
ENST00000681121.1:c.*555A>G	ENSP00000506466.1:n.*555A>G
ENST00000681132.1:c.*1211A>G	ENSP00000506195.1:n.*1211A>G
ENST00000681181.1:c.*1430A>G	ENSP00000506038.1:n.*1430A>G
ENST00000681218.1:c.*1718A>G	ENSP00000505976.1:n.*1718A>G
ENST00000681246.1:c.*1101A>G	ENSP00000505534.1:n.*1101A>G
ENST00000681496.1:c.*1718A>G	ENSP00000505948.1:n.*1718A>G
ENST00000681834.1:n.1784A>G
ENST00000681862.1:c.*1571A>G	ENSP00000505537.1:n.*1571A>G
ENST00000256578.7:c.1607A>G	ENSP00000256578.3:p.Asn536Ser
ENST00000342115.8:c.1364A>G	ENSP00000345498.4:p.Asn455Ser
ENST00000358729.8:c.1382A>G	ENSP00000351573.4:p.Asn461Ser
ENST00000369840.6:c.1518A>G
ENST00000393688.7:c.1250A>G	ENSP00000377292.3:p.Asn417Ser
ENST00000526301.5:n.1646A>G
ENST00000528454.5:c.1253A>G	ENSP00000437164.1:p.Asn418Ser
ENST00000528667.5:c.1607A>G	ENSP00000436541.1:p.Asn536Ser
ENST00000532851.1:n.155A>G
ENST00000533132.1:n.147A>G
NM_001257360.1:c.1607A>G	NP_001244289.1:p.Asn536Ser
NM_001257361.1:c.1253A>G	NP_001244290.1:p.Asn418Ser
NM_001308170.1:c.1382A>G	NP_001295099.1:p.Asn461Ser
NM_004037.7:c.1607A>G	NP_004028.3:p.Asn536Ser
NM_139156.3:c.1364A>G	NP_631895.1:p.Asn455Ser
NM_203404.1:c.1250A>G	NP_981949.1:p.Asn417Ser
XM_011541247.1:c.1820A>G	XP_011539549.1:p.Asn607Ser
XM_011541248.1:c.1782+185A>G	XP_011539550.1:n.1782+185A>G
XR_946607.1:n.1843A>G
XM_024446431.1:c.1382A>G	XP_024302199.1:p.Asn461Ser
XM_024446432.1:c.1430+185A>G	XP_024302200.1:n.1430+185A>G
XR_002956282.1:n.2018A>G
NM_001257360.2:c.1607A>G	NP_001244289.1:p.Asn536Ser
NM_001368809.2:c.1445A>G MANE Select	NP_001355738.1:p.Asn482Ser
NM_004037.9:c.1445A>G	NP_004028.4:p.Asn482Ser
NM_001257361.2:c.1253A>G	NP_001244290.1:p.Asn418Ser
NM_139156.4:c.1364A>G	NP_631895.1:p.Asn455Ser