Canonical Allele Identifier: CA2057461

Gene: ALS2

Linked Data

• ClinVar Variation Id: 813696
• ClinVar RCV Id: RCV001252923 ; RCV001862739
• dbSNP Id: rs189412622
• ExAC: 2:202568909 A / G
• gnomAD v2: 2-202568909-A-G
• gnomAD v3: 2-201704186-A-G
• gnomAD v4: 2-201704186-A-G
• MyVariant Identifiers: chr2:g.202568909A>G (hg19) ; chr2:g.201704186A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704186A>G , CM000664.2:g.201704186A>G	GRCh38
NC_000002.11:g.202568909A>G , CM000664.1:g.202568909A>G	GRCh37
NC_000002.10:g.202277154A>G	NCBI36
NG_008775.1:g.81987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4871T>C MANE Select	ENSP00000264276.6:p.Ile1624Thr
ENST00000439495.6:c.*1051T>C	ENSP00000403832.2:n.*1051T>C
ENST00000679409.1:c.*1576T>C	ENSP00000506531.1:n.*1576T>C
ENST00000679416.1:n.6375T>C
ENST00000679427.1:n.2542T>C
ENST00000679435.1:c.4871T>C	ENSP00000505218.1:p.Ile1624Thr
ENST00000679516.1:c.4871T>C	ENSP00000505187.1:p.Ile1624Thr
ENST00000679618.1:c.*1959T>C	ENSP00000506274.1:n.*1959T>C
ENST00000679630.1:n.6720T>C
ENST00000679635.1:n.3133T>C
ENST00000679686.1:n.4985T>C
ENST00000679701.1:n.7863T>C
ENST00000679916.1:c.*1219T>C	ENSP00000506172.1:n.*1219T>C
ENST00000680000.1:c.4871T>C	ENSP00000506173.1:p.Ile1624Thr
ENST00000680135.1:c.*2832T>C	ENSP00000506211.1:n.*2832T>C
ENST00000680149.1:c.*153T>C	ENSP00000506497.1:n.*153T>C
ENST00000680163.1:c.4871T>C	ENSP00000505092.1:p.Ile1624Thr
ENST00000680174.1:n.5562T>C
ENST00000680236.1:c.*1932T>C	ENSP00000506212.1:n.*1932T>C
ENST00000680404.1:n.386T>C
ENST00000680441.1:n.3429T>C
ENST00000680497.1:c.4973T>C	ENSP00000505954.1:p.Ile1658Thr
ENST00000680508.1:c.*27T>C	ENSP00000505749.1:n.*27T>C
ENST00000680569.1:c.*2814T>C	ENSP00000505522.1:n.*2814T>C
ENST00000680634.1:n.1379T>C
ENST00000680722.1:n.2671T>C
ENST00000680726.1:c.*153T>C	ENSP00000505505.1:n.*153T>C
ENST00000680759.1:c.4703T>C	ENSP00000505848.1:p.Ile1568Thr
ENST00000680814.1:c.4838+268T>C	ENSP00000505710.1:n.4838+268T>C
ENST00000680828.1:c.*2565T>C	ENSP00000505249.1:n.*2565T>C
ENST00000680861.1:c.4871T>C	ENSP00000505043.1:p.Ile1624Thr
ENST00000680927.1:c.*1051T>C	ENSP00000505473.1:n.*1051T>C
ENST00000680939.1:n.6812T>C
ENST00000681250.1:c.*1588T>C	ENSP00000505684.1:n.*1588T>C
ENST00000681256.1:c.*2886T>C	ENSP00000505446.1:n.*2886T>C
ENST00000681279.1:n.5737T>C
ENST00000681307.1:n.5984T>C
ENST00000681461.1:n.5639T>C
ENST00000681495.1:c.2408T>C	ENSP00000506085.1:p.Ile803Thr
ENST00000681558.1:c.2549T>C	ENSP00000505568.1:p.Ile850Thr
ENST00000681619.1:c.4868T>C	ENSP00000505071.1:p.Ile1623Thr
ENST00000681663.1:n.1777T>C
ENST00000681692.1:n.2831T>C
ENST00000681716.1:c.*2725T>C	ENSP00000505078.1:n.*2725T>C
ENST00000681768.1:c.*2535T>C	ENSP00000506311.1:n.*2535T>C
ENST00000681808.1:c.4694T>C	ENSP00000505219.1:p.Ile1565Thr
ENST00000264276.10:c.4871T>C	ENSP00000264276.6:p.Ile1624Thr
ENST00000439495.5:c.2975T>C
NM_020919.3:c.4871T>C	NP_065970.2:p.Ile1624Thr
XM_005246709.2:c.4868T>C	XP_005246766.1:p.Ile1623Thr
XM_006712654.1:c.4871T>C	XP_006712717.1:p.Ile1624Thr
XM_006712655.2:c.2807T>C	XP_006712718.1:p.Ile936Thr
XM_011511530.1:c.4532T>C	XP_011509832.1:p.Ile1511Thr
XR_922974.1:n.5149T>C
XM_006712654.3:c.4871T>C	XP_006712717.1:p.Ile1624Thr
XM_006712655.3:c.2807T>C	XP_006712718.1:p.Ile936Thr
XM_017004569.2:c.4868T>C	XP_016860058.1:p.Ile1623Thr
XM_017004572.2:c.2489T>C	XP_016860061.1:p.Ile830Thr
XM_024453024.1:c.4532T>C	XP_024308792.1:p.Ile1511Thr
XM_024453025.1:c.2804T>C	XP_024308793.1:p.Ile935Thr
XR_001738864.2:n.4986T>C
XR_001738865.2:n.4983T>C
XR_001738866.2:n.5149T>C
XR_001738867.2:n.5146T>C
XR_002959320.1:n.4042T>C
NM_020919.4:c.4871T>C MANE Select	NP_065970.2:p.Ile1624Thr