Canonical Allele Identifier: CA350320422

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568910T>A (hg19) ; chr2:g.201704187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704187T>A , CM000664.2:g.201704187T>A	GRCh38
NC_000002.11:g.202568910T>A , CM000664.1:g.202568910T>A	GRCh37
NC_000002.10:g.202277155T>A	NCBI36
NG_008775.1:g.81986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4870A>T MANE Select	ENSP00000264276.6:p.Ile1624Phe
ENST00000439495.6:c.*1050A>T	ENSP00000403832.2:n.*1050A>T
ENST00000679409.1:c.*1575A>T	ENSP00000506531.1:n.*1575A>T
ENST00000679416.1:n.6374A>T
ENST00000679427.1:n.2541A>T
ENST00000679435.1:c.4870A>T	ENSP00000505218.1:p.Ile1624Phe
ENST00000679516.1:c.4870A>T	ENSP00000505187.1:p.Ile1624Phe
ENST00000679618.1:c.*1958A>T	ENSP00000506274.1:n.*1958A>T
ENST00000679630.1:n.6719A>T
ENST00000679635.1:n.3132A>T
ENST00000679686.1:n.4984A>T
ENST00000679701.1:n.7862A>T
ENST00000679916.1:c.*1218A>T	ENSP00000506172.1:n.*1218A>T
ENST00000680000.1:c.4870A>T	ENSP00000506173.1:p.Ile1624Phe
ENST00000680135.1:c.*2831A>T	ENSP00000506211.1:n.*2831A>T
ENST00000680149.1:c.*152A>T	ENSP00000506497.1:n.*152A>T
ENST00000680163.1:c.4870A>T	ENSP00000505092.1:p.Ile1624Phe
ENST00000680174.1:n.5561A>T
ENST00000680236.1:c.*1931A>T	ENSP00000506212.1:n.*1931A>T
ENST00000680404.1:n.385A>T
ENST00000680441.1:n.3428A>T
ENST00000680497.1:c.4972A>T	ENSP00000505954.1:p.Ile1658Phe
ENST00000680508.1:c.*26A>T	ENSP00000505749.1:n.*26A>T
ENST00000680569.1:c.*2813A>T	ENSP00000505522.1:n.*2813A>T
ENST00000680634.1:n.1378A>T
ENST00000680722.1:n.2670A>T
ENST00000680726.1:c.*152A>T	ENSP00000505505.1:n.*152A>T
ENST00000680759.1:c.4702A>T	ENSP00000505848.1:p.Ile1568Phe
ENST00000680814.1:c.4838+267A>T	ENSP00000505710.1:n.4838+267A>T
ENST00000680828.1:c.*2564A>T	ENSP00000505249.1:n.*2564A>T
ENST00000680861.1:c.4870A>T	ENSP00000505043.1:p.Ile1624Phe
ENST00000680927.1:c.*1050A>T	ENSP00000505473.1:n.*1050A>T
ENST00000680939.1:n.6811A>T
ENST00000681250.1:c.*1587A>T	ENSP00000505684.1:n.*1587A>T
ENST00000681256.1:c.*2885A>T	ENSP00000505446.1:n.*2885A>T
ENST00000681279.1:n.5736A>T
ENST00000681307.1:n.5983A>T
ENST00000681461.1:n.5638A>T
ENST00000681495.1:c.2407A>T	ENSP00000506085.1:p.Ile803Phe
ENST00000681558.1:c.2548A>T	ENSP00000505568.1:p.Ile850Phe
ENST00000681619.1:c.4867A>T	ENSP00000505071.1:p.Ile1623Phe
ENST00000681663.1:n.1776A>T
ENST00000681692.1:n.2830A>T
ENST00000681716.1:c.*2724A>T	ENSP00000505078.1:n.*2724A>T
ENST00000681768.1:c.*2534A>T	ENSP00000506311.1:n.*2534A>T
ENST00000681808.1:c.4693A>T	ENSP00000505219.1:p.Ile1565Phe
ENST00000264276.10:c.4870A>T	ENSP00000264276.6:p.Ile1624Phe
ENST00000439495.5:c.2974A>T
NM_020919.3:c.4870A>T	NP_065970.2:p.Ile1624Phe
XM_005246709.2:c.4867A>T	XP_005246766.1:p.Ile1623Phe
XM_006712654.1:c.4870A>T	XP_006712717.1:p.Ile1624Phe
XM_006712655.2:c.2806A>T	XP_006712718.1:p.Ile936Phe
XM_011511530.1:c.4531A>T	XP_011509832.1:p.Ile1511Phe
XR_922974.1:n.5148A>T
XM_006712654.3:c.4870A>T	XP_006712717.1:p.Ile1624Phe
XM_006712655.3:c.2806A>T	XP_006712718.1:p.Ile936Phe
XM_017004569.2:c.4867A>T	XP_016860058.1:p.Ile1623Phe
XM_017004572.2:c.2488A>T	XP_016860061.1:p.Ile830Phe
XM_024453024.1:c.4531A>T	XP_024308792.1:p.Ile1511Phe
XM_024453025.1:c.2803A>T	XP_024308793.1:p.Ile935Phe
XR_001738864.2:n.4985A>T
XR_001738865.2:n.4982A>T
XR_001738866.2:n.5148A>T
XR_001738867.2:n.5145A>T
XR_002959320.1:n.4041A>T
NM_020919.4:c.4870A>T MANE Select	NP_065970.2:p.Ile1624Phe