Canonical Allele Identifier: CA2057460

Gene: ALS2

Linked Data

• ClinVar Variation Id: 1545553
• ClinVar RCV Id: RCV002167994
• dbSNP Id: rs200069179
• ExAC: 2:202568899 T / C
• gnomAD v2: 2-202568899-T-C
• gnomAD v3: 2-201704176-T-C
• gnomAD v4: 2-201704176-T-C
• MyVariant Identifiers: chr2:g.202568899T>C (hg19) ; chr2:g.201704176T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704176T>C , CM000664.2:g.201704176T>C	GRCh38
NC_000002.11:g.202568899T>C , CM000664.1:g.202568899T>C	GRCh37
NC_000002.10:g.202277144T>C	NCBI36
NG_008775.1:g.81997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4881A>G MANE Select	ENSP00000264276.6:p.Leu1627=
ENST00000439495.6:c.*1061A>G	ENSP00000403832.2:n.*1061A>G
ENST00000679409.1:c.*1586A>G	ENSP00000506531.1:n.*1586A>G
ENST00000679416.1:n.6385A>G
ENST00000679427.1:n.2552A>G
ENST00000679435.1:c.4881A>G	ENSP00000505218.1:p.Leu1627=
ENST00000679516.1:c.4881A>G	ENSP00000505187.1:p.Leu1627=
ENST00000679618.1:c.*1969A>G	ENSP00000506274.1:n.*1969A>G
ENST00000679630.1:n.6730A>G
ENST00000679635.1:n.3143A>G
ENST00000679686.1:n.4995A>G
ENST00000679701.1:n.7873A>G
ENST00000679916.1:c.*1229A>G	ENSP00000506172.1:n.*1229A>G
ENST00000680000.1:c.4881A>G	ENSP00000506173.1:p.Leu1627=
ENST00000680135.1:c.*2842A>G	ENSP00000506211.1:n.*2842A>G
ENST00000680149.1:c.*163A>G	ENSP00000506497.1:n.*163A>G
ENST00000680163.1:c.4881A>G	ENSP00000505092.1:p.Leu1627=
ENST00000680174.1:n.5572A>G
ENST00000680236.1:c.*1942A>G	ENSP00000506212.1:n.*1942A>G
ENST00000680404.1:n.396A>G
ENST00000680441.1:n.3439A>G
ENST00000680497.1:c.4983A>G	ENSP00000505954.1:p.Leu1661=
ENST00000680508.1:c.*37A>G	ENSP00000505749.1:n.*37A>G
ENST00000680569.1:c.*2824A>G	ENSP00000505522.1:n.*2824A>G
ENST00000680634.1:n.1389A>G
ENST00000680722.1:n.2681A>G
ENST00000680726.1:c.*163A>G	ENSP00000505505.1:n.*163A>G
ENST00000680759.1:c.4713A>G	ENSP00000505848.1:p.Leu1571=
ENST00000680814.1:c.4838+278A>G	ENSP00000505710.1:n.4838+278A>G
ENST00000680828.1:c.*2575A>G	ENSP00000505249.1:n.*2575A>G
ENST00000680861.1:c.4881A>G	ENSP00000505043.1:p.Leu1627=
ENST00000680927.1:c.*1061A>G	ENSP00000505473.1:n.*1061A>G
ENST00000680939.1:n.6822A>G
ENST00000681250.1:c.*1598A>G	ENSP00000505684.1:n.*1598A>G
ENST00000681256.1:c.*2896A>G	ENSP00000505446.1:n.*2896A>G
ENST00000681279.1:n.5747A>G
ENST00000681307.1:n.5994A>G
ENST00000681461.1:n.5649A>G
ENST00000681495.1:c.2418A>G	ENSP00000506085.1:p.Leu806=
ENST00000681558.1:c.2559A>G	ENSP00000505568.1:p.Leu853=
ENST00000681619.1:c.4878A>G	ENSP00000505071.1:p.Leu1626=
ENST00000681663.1:n.1787A>G
ENST00000681692.1:n.2841A>G
ENST00000681716.1:c.*2735A>G	ENSP00000505078.1:n.*2735A>G
ENST00000681768.1:c.*2545A>G	ENSP00000506311.1:n.*2545A>G
ENST00000681808.1:c.4704A>G	ENSP00000505219.1:p.Leu1568=
ENST00000264276.10:c.4881A>G	ENSP00000264276.6:p.Leu1627=
ENST00000439495.5:c.2985A>G
NM_020919.3:c.4881A>G	NP_065970.2:p.Leu1627=
XM_005246709.2:c.4878A>G	XP_005246766.1:p.Leu1626=
XM_006712654.1:c.4881A>G	XP_006712717.1:p.Leu1627=
XM_006712655.2:c.2817A>G	XP_006712718.1:p.Leu939=
XM_011511530.1:c.4542A>G	XP_011509832.1:p.Leu1514=
XR_922974.1:n.5159A>G
XM_006712654.3:c.4881A>G	XP_006712717.1:p.Leu1627=
XM_006712655.3:c.2817A>G	XP_006712718.1:p.Leu939=
XM_017004569.2:c.4878A>G	XP_016860058.1:p.Leu1626=
XM_017004572.2:c.2499A>G	XP_016860061.1:p.Leu833=
XM_024453024.1:c.4542A>G	XP_024308792.1:p.Leu1514=
XM_024453025.1:c.2814A>G	XP_024308793.1:p.Leu938=
XR_001738864.2:n.4996A>G
XR_001738865.2:n.4993A>G
XR_001738866.2:n.5159A>G
XR_001738867.2:n.5156A>G
XR_002959320.1:n.4052A>G
NM_020919.4:c.4881A>G MANE Select	NP_065970.2:p.Leu1627=