Canonical Allele Identifier: CA341559112

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171346T>G (hg19) ; chr1:g.109628724T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628724T>G , CM000663.2:g.109628724T>G	GRCh38
NC_000001.10:g.110171346T>G , CM000663.1:g.110171346T>G	GRCh37
NC_000001.9:g.109972869T>G	NCBI36
NG_034075.1:g.13912T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1489T>G	ENSP00000256578.4:p.Trp497Gly
ENST00000358729.9:c.1489T>G	ENSP00000351573.5:p.Trp497Gly
ENST00000369840.7:c.1489T>G	ENSP00000358855.3:p.Trp497Gly
ENST00000474459.6:n.2108T>G
ENST00000476688.3:c.1171T>G	ENSP00000437025.2:p.Trp391Gly
ENST00000486282.7:n.2445T>G
ENST00000524975.2:n.1970T>G
ENST00000525415.2:n.2005T>G
ENST00000526301.6:n.1552T>G
ENST00000527846.7:n.1344T>G
ENST00000528667.7:c.1489T>G MANE Select	ENSP00000436541.2:p.Trp497Gly
ENST00000531203.6:c.1297T>G	ENSP00000431975.2:p.Trp433Gly
ENST00000531734.6:c.1408T>G	ENSP00000433739.2:p.Trp470Gly
ENST00000652975.2:c.*1241T>G	ENSP00000499620.2:n.*1241T>G
ENST00000654851.1:n.1331T>G
ENST00000655992.1:c.1297T>G	ENSP00000499740.1:p.Trp433Gly
ENST00000659122.2:c.1407+229T>G	ENSP00000499621.2:n.1407+229T>G
ENST00000663749.1:c.*1236T>G	ENSP00000499739.1:n.*1236T>G
ENST00000667949.2:c.889T>G	ENSP00000499465.2:p.Trp297Gly
ENST00000668421.1:c.*1430T>G	ENSP00000499362.1:n.*1430T>G
ENST00000679379.1:c.*1241T>G	ENSP00000505528.1:n.*1241T>G
ENST00000679593.1:c.1489T>G	ENSP00000505999.1:p.Trp497Gly
ENST00000679880.1:n.2025T>G
ENST00000679892.1:c.*1257T>G	ENSP00000504882.1:n.*1257T>G
ENST00000679981.1:c.*1503T>G	ENSP00000506422.1:n.*1503T>G
ENST00000680132.1:c.*1439T>G	ENSP00000505950.1:n.*1439T>G
ENST00000680148.1:c.*1241T>G	ENSP00000505994.1:n.*1241T>G
ENST00000680170.1:n.2354T>G
ENST00000680192.1:n.2447T>G
ENST00000680519.1:n.1725T>G
ENST00000680531.1:c.*1236T>G	ENSP00000506332.1:n.*1236T>G
ENST00000680820.1:c.*1241T>G	ENSP00000505735.1:n.*1241T>G
ENST00000680832.1:c.*1589T>G	ENSP00000505774.1:n.*1589T>G
ENST00000680929.1:c.*1178T>G	ENSP00000504916.1:n.*1178T>G
ENST00000681108.1:c.*1245+229T>G	ENSP00000506701.1:n.*1245+229T>G
ENST00000681121.1:c.*599T>G	ENSP00000506466.1:n.*599T>G
ENST00000681132.1:c.*1255T>G	ENSP00000506195.1:n.*1255T>G
ENST00000681181.1:c.*1474T>G	ENSP00000506038.1:n.*1474T>G
ENST00000681218.1:c.*1762T>G	ENSP00000505976.1:n.*1762T>G
ENST00000681246.1:c.*1145T>G	ENSP00000505534.1:n.*1145T>G
ENST00000681496.1:c.*1762T>G	ENSP00000505948.1:n.*1762T>G
ENST00000681834.1:n.1828T>G
ENST00000681862.1:c.*1615T>G	ENSP00000505537.1:n.*1615T>G
ENST00000256578.7:c.1651T>G	ENSP00000256578.3:p.Trp551Gly
ENST00000342115.8:c.1408T>G	ENSP00000345498.4:p.Trp470Gly
ENST00000358729.8:c.1426T>G	ENSP00000351573.4:p.Trp476Gly
ENST00000369840.6:c.1562T>G
ENST00000393688.7:c.1294T>G	ENSP00000377292.3:p.Trp432Gly
ENST00000467071.1:n.11T>G
ENST00000526301.5:n.1690T>G
ENST00000528454.5:c.1297T>G	ENSP00000437164.1:p.Trp433Gly
ENST00000528667.5:c.1651T>G	ENSP00000436541.1:p.Trp551Gly
ENST00000532851.1:n.199T>G
ENST00000533132.1:n.191T>G
NM_001257360.1:c.1651T>G	NP_001244289.1:p.Trp551Gly
NM_001257361.1:c.1297T>G	NP_001244290.1:p.Trp433Gly
NM_001308170.1:c.1426T>G	NP_001295099.1:p.Trp476Gly
NM_004037.7:c.1651T>G	NP_004028.3:p.Trp551Gly
NM_139156.3:c.1408T>G	NP_631895.1:p.Trp470Gly
NM_203404.1:c.1294T>G	NP_981949.1:p.Trp432Gly
XM_011541247.1:c.1864T>G	XP_011539549.1:p.Trp622Gly
XM_011541248.1:c.1782+229T>G	XP_011539550.1:n.1782+229T>G
XR_946607.1:n.1887T>G
XM_024446431.1:c.1426T>G	XP_024302199.1:p.Trp476Gly
XM_024446432.1:c.1430+229T>G	XP_024302200.1:n.1430+229T>G
XR_002956282.1:n.2062T>G
NM_001257360.2:c.1651T>G	NP_001244289.1:p.Trp551Gly
NM_001368809.2:c.1489T>G MANE Select	NP_001355738.1:p.Trp497Gly
NM_004037.9:c.1489T>G	NP_004028.4:p.Trp497Gly
NM_001257361.2:c.1297T>G	NP_001244290.1:p.Trp433Gly
NM_139156.4:c.1408T>G	NP_631895.1:p.Trp470Gly