Canonical Allele Identifier: CA430667693

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202569299A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704576A>G , CM000664.2:g.201704576A>G	GRCh38
NC_000002.11:g.202569299A>G , CM000664.1:g.202569299A>G	GRCh37
NC_000002.10:g.202277544A>G	NCBI36
NG_008775.1:g.81597T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4716T>C MANE Select	ENSP00000264276.6:p.Leu1572=
ENST00000439495.6:c.*896T>C	ENSP00000403832.2:n.*896T>C
ENST00000679409.1:c.*1186T>C	ENSP00000506531.1:n.*1186T>C
ENST00000679416.1:n.6220T>C
ENST00000679427.1:n.2152T>C
ENST00000679435.1:c.4716T>C	ENSP00000505218.1:p.Leu1572=
ENST00000679516.1:c.4716T>C	ENSP00000505187.1:p.Leu1572=
ENST00000679618.1:c.*1804T>C	ENSP00000506274.1:n.*1804T>C
ENST00000679630.1:n.6565T>C
ENST00000679635.1:n.2743T>C
ENST00000679686.1:n.4830T>C
ENST00000679701.1:n.7708T>C
ENST00000679916.1:c.*1064T>C	ENSP00000506172.1:n.*1064T>C
ENST00000680000.1:c.4716T>C	ENSP00000506173.1:p.Leu1572=
ENST00000680135.1:c.*2677T>C	ENSP00000506211.1:n.*2677T>C
ENST00000680149.1:c.4693T>C	ENSP00000506497.1:p.Ter1565Gln
ENST00000680163.1:c.4716T>C	ENSP00000505092.1:p.Leu1572=
ENST00000680174.1:n.5407T>C
ENST00000680236.1:c.*1777T>C	ENSP00000506212.1:n.*1777T>C
ENST00000680404.1:n.231T>C
ENST00000680441.1:n.3274T>C
ENST00000680497.1:c.4818T>C	ENSP00000505954.1:p.Leu1606=
ENST00000680508.1:c.4713T>C	ENSP00000505749.1:p.Leu1571=
ENST00000680569.1:c.*2424T>C	ENSP00000505522.1:n.*2424T>C
ENST00000680634.1:n.1224T>C
ENST00000680722.1:n.2516T>C
ENST00000680726.1:c.4696T>C	ENSP00000505505.1:p.Ter1566Gln
ENST00000680759.1:c.4548T>C	ENSP00000505848.1:p.Leu1516=
ENST00000680814.1:c.4716T>C	ENSP00000505710.1:p.Leu1572=
ENST00000680828.1:c.*2410T>C	ENSP00000505249.1:n.*2410T>C
ENST00000680861.1:c.4716T>C	ENSP00000505043.1:p.Leu1572=
ENST00000680927.1:c.*896T>C	ENSP00000505473.1:n.*896T>C
ENST00000680939.1:n.6422T>C
ENST00000681250.1:c.*1433T>C	ENSP00000505684.1:n.*1433T>C
ENST00000681256.1:c.*2731T>C	ENSP00000505446.1:n.*2731T>C
ENST00000681279.1:n.5582T>C
ENST00000681307.1:n.5829T>C
ENST00000681461.1:n.5484T>C
ENST00000681495.1:c.2253T>C	ENSP00000506085.1:p.Leu751=
ENST00000681558.1:c.2394T>C	ENSP00000505568.1:p.Leu798=
ENST00000681619.1:c.4713T>C	ENSP00000505071.1:p.Leu1571=
ENST00000681663.1:n.1622T>C
ENST00000681692.1:n.2676T>C
ENST00000681716.1:c.*2570T>C	ENSP00000505078.1:n.*2570T>C
ENST00000681768.1:c.*2380T>C	ENSP00000506311.1:n.*2380T>C
ENST00000681808.1:c.4539T>C	ENSP00000505219.1:p.Leu1513=
ENST00000264276.10:c.4716T>C	ENSP00000264276.6:p.Leu1572=
ENST00000439495.5:c.2820T>C
NM_020919.3:c.4716T>C	NP_065970.2:p.Leu1572=
XM_005246709.2:c.4713T>C	XP_005246766.1:p.Leu1571=
XM_006712654.1:c.4716T>C	XP_006712717.1:p.Leu1572=
XM_006712655.2:c.2652T>C	XP_006712718.1:p.Leu884=
XM_011511530.1:c.4377T>C	XP_011509832.1:p.Leu1459=
XR_922974.1:n.4994T>C
XM_006712654.3:c.4716T>C	XP_006712717.1:p.Leu1572=
XM_006712655.3:c.2652T>C	XP_006712718.1:p.Leu884=
XM_017004569.2:c.4713T>C	XP_016860058.1:p.Leu1571=
XM_017004572.2:c.2334T>C	XP_016860061.1:p.Leu778=
XM_024453024.1:c.4377T>C	XP_024308792.1:p.Leu1459=
XM_024453025.1:c.2649T>C	XP_024308793.1:p.Leu883=
XR_001738864.2:n.4831T>C
XR_001738865.2:n.4828T>C
XR_001738866.2:n.4994T>C
XR_001738867.2:n.4991T>C
XR_002959320.1:n.3887T>C
NM_020919.4:c.4716T>C MANE Select	NP_065970.2:p.Leu1572=