Canonical Allele Identifier: CA341559087

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171335C>G (hg19) ; chr1:g.109628713C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628713C>G , CM000663.2:g.109628713C>G	GRCh38
NC_000001.10:g.110171335C>G , CM000663.1:g.110171335C>G	GRCh37
NC_000001.9:g.109972858C>G	NCBI36
NG_034075.1:g.13901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1478C>G	ENSP00000256578.4:p.Ser493Trp
ENST00000358729.9:c.1478C>G	ENSP00000351573.5:p.Ser493Trp
ENST00000369840.7:c.1478C>G	ENSP00000358855.3:p.Ser493Trp
ENST00000474459.6:n.2097C>G
ENST00000476688.3:c.1160C>G	ENSP00000437025.2:p.Ser387Trp
ENST00000486282.7:n.2434C>G
ENST00000524975.2:n.1959C>G
ENST00000525415.2:n.1994C>G
ENST00000526301.6:n.1541C>G
ENST00000527846.7:n.1333C>G
ENST00000528667.7:c.1478C>G MANE Select	ENSP00000436541.2:p.Ser493Trp
ENST00000531203.6:c.1286C>G	ENSP00000431975.2:p.Ser429Trp
ENST00000531734.6:c.1397C>G	ENSP00000433739.2:p.Ser466Trp
ENST00000652975.2:c.*1230C>G	ENSP00000499620.2:n.*1230C>G
ENST00000654851.1:n.1320C>G
ENST00000655992.1:c.1286C>G	ENSP00000499740.1:p.Ser429Trp
ENST00000659122.2:c.1407+218C>G	ENSP00000499621.2:n.1407+218C>G
ENST00000663749.1:c.*1225C>G	ENSP00000499739.1:n.*1225C>G
ENST00000667949.2:c.878C>G	ENSP00000499465.2:p.Ser293Trp
ENST00000668421.1:c.*1419C>G	ENSP00000499362.1:n.*1419C>G
ENST00000679379.1:c.*1230C>G	ENSP00000505528.1:n.*1230C>G
ENST00000679593.1:c.1478C>G	ENSP00000505999.1:p.Ser493Trp
ENST00000679880.1:n.2014C>G
ENST00000679892.1:c.*1246C>G	ENSP00000504882.1:n.*1246C>G
ENST00000679981.1:c.*1492C>G	ENSP00000506422.1:n.*1492C>G
ENST00000680132.1:c.*1428C>G	ENSP00000505950.1:n.*1428C>G
ENST00000680148.1:c.*1230C>G	ENSP00000505994.1:n.*1230C>G
ENST00000680170.1:n.2343C>G
ENST00000680192.1:n.2436C>G
ENST00000680519.1:n.1714C>G
ENST00000680531.1:c.*1225C>G	ENSP00000506332.1:n.*1225C>G
ENST00000680820.1:c.*1230C>G	ENSP00000505735.1:n.*1230C>G
ENST00000680832.1:c.*1578C>G	ENSP00000505774.1:n.*1578C>G
ENST00000680929.1:c.*1167C>G	ENSP00000504916.1:n.*1167C>G
ENST00000681108.1:c.*1245+218C>G	ENSP00000506701.1:n.*1245+218C>G
ENST00000681121.1:c.*588C>G	ENSP00000506466.1:n.*588C>G
ENST00000681132.1:c.*1244C>G	ENSP00000506195.1:n.*1244C>G
ENST00000681181.1:c.*1463C>G	ENSP00000506038.1:n.*1463C>G
ENST00000681218.1:c.*1751C>G	ENSP00000505976.1:n.*1751C>G
ENST00000681246.1:c.*1134C>G	ENSP00000505534.1:n.*1134C>G
ENST00000681496.1:c.*1751C>G	ENSP00000505948.1:n.*1751C>G
ENST00000681834.1:n.1817C>G
ENST00000681862.1:c.*1604C>G	ENSP00000505537.1:n.*1604C>G
ENST00000256578.7:c.1640C>G	ENSP00000256578.3:p.Ser547Trp
ENST00000342115.8:c.1397C>G	ENSP00000345498.4:p.Ser466Trp
ENST00000358729.8:c.1415C>G	ENSP00000351573.4:p.Ser472Trp
ENST00000369840.6:c.1551C>G
ENST00000393688.7:c.1283C>G	ENSP00000377292.3:p.Ser428Trp
ENST00000526301.5:n.1679C>G
ENST00000528454.5:c.1286C>G	ENSP00000437164.1:p.Ser429Trp
ENST00000528667.5:c.1640C>G	ENSP00000436541.1:p.Ser547Trp
ENST00000532851.1:n.188C>G
ENST00000533132.1:n.180C>G
NM_001257360.1:c.1640C>G	NP_001244289.1:p.Ser547Trp
NM_001257361.1:c.1286C>G	NP_001244290.1:p.Ser429Trp
NM_001308170.1:c.1415C>G	NP_001295099.1:p.Ser472Trp
NM_004037.7:c.1640C>G	NP_004028.3:p.Ser547Trp
NM_139156.3:c.1397C>G	NP_631895.1:p.Ser466Trp
NM_203404.1:c.1283C>G	NP_981949.1:p.Ser428Trp
XM_011541247.1:c.1853C>G	XP_011539549.1:p.Ser618Trp
XM_011541248.1:c.1782+218C>G	XP_011539550.1:n.1782+218C>G
XR_946607.1:n.1876C>G
XM_024446431.1:c.1415C>G	XP_024302199.1:p.Ser472Trp
XM_024446432.1:c.1430+218C>G	XP_024302200.1:n.1430+218C>G
XR_002956282.1:n.2051C>G
NM_001257360.2:c.1640C>G	NP_001244289.1:p.Ser547Trp
NM_001368809.2:c.1478C>G MANE Select	NP_001355738.1:p.Ser493Trp
NM_004037.9:c.1478C>G	NP_004028.4:p.Ser493Trp
NM_001257361.2:c.1286C>G	NP_001244290.1:p.Ser429Trp
NM_139156.4:c.1397C>G	NP_631895.1:p.Ser466Trp