Canonical Allele Identifier: CA350321046

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202569301G>T (hg19) ; chr2:g.201704578G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704578G>T , CM000664.2:g.201704578G>T	GRCh38
NC_000002.11:g.202569301G>T , CM000664.1:g.202569301G>T	GRCh37
NC_000002.10:g.202277546G>T	NCBI36
NG_008775.1:g.81595C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4714C>A MANE Select	ENSP00000264276.6:p.Leu1572Ile
ENST00000439495.6:c.*894C>A	ENSP00000403832.2:n.*894C>A
ENST00000679409.1:c.*1184C>A	ENSP00000506531.1:n.*1184C>A
ENST00000679416.1:n.6218C>A
ENST00000679427.1:n.2150C>A
ENST00000679435.1:c.4714C>A	ENSP00000505218.1:p.Leu1572Ile
ENST00000679516.1:c.4714C>A	ENSP00000505187.1:p.Leu1572Ile
ENST00000679618.1:c.*1802C>A	ENSP00000506274.1:n.*1802C>A
ENST00000679630.1:n.6563C>A
ENST00000679635.1:n.2741C>A
ENST00000679686.1:n.4828C>A
ENST00000679701.1:n.7706C>A
ENST00000679916.1:c.*1062C>A	ENSP00000506172.1:n.*1062C>A
ENST00000680000.1:c.4714C>A	ENSP00000506173.1:p.Leu1572Ile
ENST00000680135.1:c.*2675C>A	ENSP00000506211.1:n.*2675C>A
ENST00000680149.1:c.4691C>A	ENSP00000506497.1:p.Thr1564Asn
ENST00000680163.1:c.4714C>A	ENSP00000505092.1:p.Leu1572Ile
ENST00000680174.1:n.5405C>A
ENST00000680236.1:c.*1775C>A	ENSP00000506212.1:n.*1775C>A
ENST00000680404.1:n.229C>A
ENST00000680441.1:n.3272C>A
ENST00000680497.1:c.4816C>A	ENSP00000505954.1:p.Leu1606Ile
ENST00000680508.1:c.4711C>A	ENSP00000505749.1:p.Leu1571Ile
ENST00000680569.1:c.*2422C>A	ENSP00000505522.1:n.*2422C>A
ENST00000680634.1:n.1222C>A
ENST00000680722.1:n.2514C>A
ENST00000680726.1:c.4694C>A	ENSP00000505505.1:p.Thr1565Asn
ENST00000680759.1:c.4546C>A	ENSP00000505848.1:p.Leu1516Ile
ENST00000680814.1:c.4714C>A	ENSP00000505710.1:p.Leu1572Ile
ENST00000680828.1:c.*2408C>A	ENSP00000505249.1:n.*2408C>A
ENST00000680861.1:c.4714C>A	ENSP00000505043.1:p.Leu1572Ile
ENST00000680927.1:c.*894C>A	ENSP00000505473.1:n.*894C>A
ENST00000680939.1:n.6420C>A
ENST00000681250.1:c.*1431C>A	ENSP00000505684.1:n.*1431C>A
ENST00000681256.1:c.*2729C>A	ENSP00000505446.1:n.*2729C>A
ENST00000681279.1:n.5580C>A
ENST00000681307.1:n.5827C>A
ENST00000681461.1:n.5482C>A
ENST00000681495.1:c.2251C>A	ENSP00000506085.1:p.Leu751Ile
ENST00000681558.1:c.2392C>A	ENSP00000505568.1:p.Leu798Ile
ENST00000681619.1:c.4711C>A	ENSP00000505071.1:p.Leu1571Ile
ENST00000681663.1:n.1620C>A
ENST00000681692.1:n.2674C>A
ENST00000681716.1:c.*2568C>A	ENSP00000505078.1:n.*2568C>A
ENST00000681768.1:c.*2378C>A	ENSP00000506311.1:n.*2378C>A
ENST00000681808.1:c.4537C>A	ENSP00000505219.1:p.Leu1513Ile
ENST00000264276.10:c.4714C>A	ENSP00000264276.6:p.Leu1572Ile
ENST00000439495.5:c.2818C>A
NM_020919.3:c.4714C>A	NP_065970.2:p.Leu1572Ile
XM_005246709.2:c.4711C>A	XP_005246766.1:p.Leu1571Ile
XM_006712654.1:c.4714C>A	XP_006712717.1:p.Leu1572Ile
XM_006712655.2:c.2650C>A	XP_006712718.1:p.Leu884Ile
XM_011511530.1:c.4375C>A	XP_011509832.1:p.Leu1459Ile
XR_922974.1:n.4992C>A
XM_006712654.3:c.4714C>A	XP_006712717.1:p.Leu1572Ile
XM_006712655.3:c.2650C>A	XP_006712718.1:p.Leu884Ile
XM_017004569.2:c.4711C>A	XP_016860058.1:p.Leu1571Ile
XM_017004572.2:c.2332C>A	XP_016860061.1:p.Leu778Ile
XM_024453024.1:c.4375C>A	XP_024308792.1:p.Leu1459Ile
XM_024453025.1:c.2647C>A	XP_024308793.1:p.Leu883Ile
XR_001738864.2:n.4829C>A
XR_001738865.2:n.4826C>A
XR_001738866.2:n.4992C>A
XR_001738867.2:n.4989C>A
XR_002959320.1:n.3885C>A
NM_020919.4:c.4714C>A MANE Select	NP_065970.2:p.Leu1572Ile