Canonical Allele Identifier: CA430667065

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568893G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704170G>A , CM000664.2:g.201704170G>A	GRCh38
NC_000002.11:g.202568893G>A , CM000664.1:g.202568893G>A	GRCh37
NC_000002.10:g.202277138G>A	NCBI36
NG_008775.1:g.82003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4887C>T MANE Select	ENSP00000264276.6:p.Asp1629=
ENST00000439495.6:c.*1067C>T	ENSP00000403832.2:n.*1067C>T
ENST00000679409.1:c.*1592C>T	ENSP00000506531.1:n.*1592C>T
ENST00000679416.1:n.6391C>T
ENST00000679427.1:n.2558C>T
ENST00000679435.1:c.4887C>T	ENSP00000505218.1:p.Asp1629=
ENST00000679516.1:c.4887C>T	ENSP00000505187.1:p.Asp1629=
ENST00000679618.1:c.*1975C>T	ENSP00000506274.1:n.*1975C>T
ENST00000679630.1:n.6736C>T
ENST00000679635.1:n.3149C>T
ENST00000679686.1:n.5001C>T
ENST00000679701.1:n.7879C>T
ENST00000679916.1:c.*1235C>T	ENSP00000506172.1:n.*1235C>T
ENST00000680000.1:c.4887C>T	ENSP00000506173.1:p.Asp1629=
ENST00000680135.1:c.*2848C>T	ENSP00000506211.1:n.*2848C>T
ENST00000680149.1:c.*169C>T	ENSP00000506497.1:n.*169C>T
ENST00000680163.1:c.4887C>T	ENSP00000505092.1:p.Asp1629=
ENST00000680174.1:n.5578C>T
ENST00000680236.1:c.*1948C>T	ENSP00000506212.1:n.*1948C>T
ENST00000680404.1:n.402C>T
ENST00000680441.1:n.3445C>T
ENST00000680497.1:c.4989C>T	ENSP00000505954.1:p.Asp1663=
ENST00000680508.1:c.*43C>T	ENSP00000505749.1:n.*43C>T
ENST00000680569.1:c.*2830C>T	ENSP00000505522.1:n.*2830C>T
ENST00000680634.1:n.1395C>T
ENST00000680722.1:n.2687C>T
ENST00000680726.1:c.*169C>T	ENSP00000505505.1:n.*169C>T
ENST00000680759.1:c.4719C>T	ENSP00000505848.1:p.Asp1573=
ENST00000680814.1:c.4838+284C>T	ENSP00000505710.1:n.4838+284C>T
ENST00000680828.1:c.*2581C>T	ENSP00000505249.1:n.*2581C>T
ENST00000680861.1:c.4887C>T	ENSP00000505043.1:p.Asp1629=
ENST00000680927.1:c.*1067C>T	ENSP00000505473.1:n.*1067C>T
ENST00000680939.1:n.6828C>T
ENST00000681250.1:c.*1604C>T	ENSP00000505684.1:n.*1604C>T
ENST00000681256.1:c.*2902C>T	ENSP00000505446.1:n.*2902C>T
ENST00000681279.1:n.5753C>T
ENST00000681307.1:n.6000C>T
ENST00000681461.1:n.5655C>T
ENST00000681495.1:c.2424C>T	ENSP00000506085.1:p.Asp808=
ENST00000681558.1:c.2565C>T	ENSP00000505568.1:p.Asp855=
ENST00000681619.1:c.4884C>T	ENSP00000505071.1:p.Asp1628=
ENST00000681663.1:n.1793C>T
ENST00000681692.1:n.2847C>T
ENST00000681716.1:c.*2741C>T	ENSP00000505078.1:n.*2741C>T
ENST00000681768.1:c.*2551C>T	ENSP00000506311.1:n.*2551C>T
ENST00000681808.1:c.4710C>T	ENSP00000505219.1:p.Asp1570=
ENST00000264276.10:c.4887C>T	ENSP00000264276.6:p.Asp1629=
ENST00000439495.5:c.2991C>T
NM_020919.3:c.4887C>T	NP_065970.2:p.Asp1629=
XM_005246709.2:c.4884C>T	XP_005246766.1:p.Asp1628=
XM_006712654.1:c.4887C>T	XP_006712717.1:p.Asp1629=
XM_006712655.2:c.2823C>T	XP_006712718.1:p.Asp941=
XM_011511530.1:c.4548C>T	XP_011509832.1:p.Asp1516=
XR_922974.1:n.5165C>T
XM_006712654.3:c.4887C>T	XP_006712717.1:p.Asp1629=
XM_006712655.3:c.2823C>T	XP_006712718.1:p.Asp941=
XM_017004569.2:c.4884C>T	XP_016860058.1:p.Asp1628=
XM_017004572.2:c.2505C>T	XP_016860061.1:p.Asp835=
XM_024453024.1:c.4548C>T	XP_024308792.1:p.Asp1516=
XM_024453025.1:c.2820C>T	XP_024308793.1:p.Asp940=
XR_001738864.2:n.5002C>T
XR_001738865.2:n.4999C>T
XR_001738866.2:n.5165C>T
XR_001738867.2:n.5162C>T
XR_002959320.1:n.4058C>T
NM_020919.4:c.4887C>T MANE Select	NP_065970.2:p.Asp1629=