Canonical Allele Identifier: CA350320438

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568916G>T (hg19) ; chr2:g.201704193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704193G>T , CM000664.2:g.201704193G>T	GRCh38
NC_000002.11:g.202568916G>T , CM000664.1:g.202568916G>T	GRCh37
NC_000002.10:g.202277161G>T	NCBI36
NG_008775.1:g.81980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4864C>A MANE Select	ENSP00000264276.6:p.His1622Asn
ENST00000439495.6:c.*1044C>A	ENSP00000403832.2:n.*1044C>A
ENST00000679409.1:c.*1569C>A	ENSP00000506531.1:n.*1569C>A
ENST00000679416.1:n.6368C>A
ENST00000679427.1:n.2535C>A
ENST00000679435.1:c.4864C>A	ENSP00000505218.1:p.His1622Asn
ENST00000679516.1:c.4864C>A	ENSP00000505187.1:p.His1622Asn
ENST00000679618.1:c.*1952C>A	ENSP00000506274.1:n.*1952C>A
ENST00000679630.1:n.6713C>A
ENST00000679635.1:n.3126C>A
ENST00000679686.1:n.4978C>A
ENST00000679701.1:n.7856C>A
ENST00000679916.1:c.*1212C>A	ENSP00000506172.1:n.*1212C>A
ENST00000680000.1:c.4864C>A	ENSP00000506173.1:p.His1622Asn
ENST00000680135.1:c.*2825C>A	ENSP00000506211.1:n.*2825C>A
ENST00000680149.1:c.*146C>A	ENSP00000506497.1:n.*146C>A
ENST00000680163.1:c.4864C>A	ENSP00000505092.1:p.His1622Asn
ENST00000680174.1:n.5555C>A
ENST00000680236.1:c.*1925C>A	ENSP00000506212.1:n.*1925C>A
ENST00000680404.1:n.379C>A
ENST00000680441.1:n.3422C>A
ENST00000680497.1:c.4966C>A	ENSP00000505954.1:p.His1656Asn
ENST00000680508.1:c.*20C>A	ENSP00000505749.1:n.*20C>A
ENST00000680569.1:c.*2807C>A	ENSP00000505522.1:n.*2807C>A
ENST00000680634.1:n.1372C>A
ENST00000680722.1:n.2664C>A
ENST00000680726.1:c.*146C>A	ENSP00000505505.1:n.*146C>A
ENST00000680759.1:c.4696C>A	ENSP00000505848.1:p.His1566Asn
ENST00000680814.1:c.4838+261C>A	ENSP00000505710.1:n.4838+261C>A
ENST00000680828.1:c.*2558C>A	ENSP00000505249.1:n.*2558C>A
ENST00000680861.1:c.4864C>A	ENSP00000505043.1:p.His1622Asn
ENST00000680927.1:c.*1044C>A	ENSP00000505473.1:n.*1044C>A
ENST00000680939.1:n.6805C>A
ENST00000681250.1:c.*1581C>A	ENSP00000505684.1:n.*1581C>A
ENST00000681256.1:c.*2879C>A	ENSP00000505446.1:n.*2879C>A
ENST00000681279.1:n.5730C>A
ENST00000681307.1:n.5977C>A
ENST00000681461.1:n.5632C>A
ENST00000681495.1:c.2401C>A	ENSP00000506085.1:p.His801Asn
ENST00000681558.1:c.2542C>A	ENSP00000505568.1:p.His848Asn
ENST00000681619.1:c.4861C>A	ENSP00000505071.1:p.His1621Asn
ENST00000681663.1:n.1770C>A
ENST00000681692.1:n.2824C>A
ENST00000681716.1:c.*2718C>A	ENSP00000505078.1:n.*2718C>A
ENST00000681768.1:c.*2528C>A	ENSP00000506311.1:n.*2528C>A
ENST00000681808.1:c.4687C>A	ENSP00000505219.1:p.His1563Asn
ENST00000264276.10:c.4864C>A	ENSP00000264276.6:p.His1622Asn
ENST00000439495.5:c.2968C>A
NM_020919.3:c.4864C>A	NP_065970.2:p.His1622Asn
XM_005246709.2:c.4861C>A	XP_005246766.1:p.His1621Asn
XM_006712654.1:c.4864C>A	XP_006712717.1:p.His1622Asn
XM_006712655.2:c.2800C>A	XP_006712718.1:p.His934Asn
XM_011511530.1:c.4525C>A	XP_011509832.1:p.His1509Asn
XR_922974.1:n.5142C>A
XM_006712654.3:c.4864C>A	XP_006712717.1:p.His1622Asn
XM_006712655.3:c.2800C>A	XP_006712718.1:p.His934Asn
XM_017004569.2:c.4861C>A	XP_016860058.1:p.His1621Asn
XM_017004572.2:c.2482C>A	XP_016860061.1:p.His828Asn
XM_024453024.1:c.4525C>A	XP_024308792.1:p.His1509Asn
XM_024453025.1:c.2797C>A	XP_024308793.1:p.His933Asn
XR_001738864.2:n.4979C>A
XR_001738865.2:n.4976C>A
XR_001738866.2:n.5142C>A
XR_001738867.2:n.5139C>A
XR_002959320.1:n.4035C>A
NM_020919.4:c.4864C>A MANE Select	NP_065970.2:p.His1622Asn