Canonical Allele Identifier: CA350320166

Gene: ALS2

Linked Data

• dbSNP Id: rs1164993764
• gnomAD v2: 2-202568853-T-A
• gnomAD v4: 2-201704130-T-A
• MyVariant Identifiers: chr2:g.202568853T>A (hg19) ; chr2:g.201704130T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704130T>A , CM000664.2:g.201704130T>A	GRCh38
NC_000002.11:g.202568853T>A , CM000664.1:g.202568853T>A	GRCh37
NC_000002.10:g.202277098T>A	NCBI36
NG_008775.1:g.82043A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4927A>T MANE Select	ENSP00000264276.6:p.Thr1643Ser
ENST00000439495.6:c.*1107A>T	ENSP00000403832.2:n.*1107A>T
ENST00000679409.1:c.*1632A>T	ENSP00000506531.1:n.*1632A>T
ENST00000679416.1:n.6431A>T
ENST00000679427.1:n.2598A>T
ENST00000679435.1:c.4927A>T	ENSP00000505218.1:p.Thr1643Ser
ENST00000679516.1:c.4927A>T	ENSP00000505187.1:p.Thr1643Ser
ENST00000679618.1:c.*2015A>T	ENSP00000506274.1:n.*2015A>T
ENST00000679630.1:n.6776A>T
ENST00000679635.1:n.3189A>T
ENST00000679686.1:n.5041A>T
ENST00000679701.1:n.7919A>T
ENST00000679916.1:c.*1275A>T	ENSP00000506172.1:n.*1275A>T
ENST00000680000.1:c.4927A>T	ENSP00000506173.1:p.Thr1643Ser
ENST00000680135.1:c.*2888A>T	ENSP00000506211.1:n.*2888A>T
ENST00000680149.1:c.*209A>T	ENSP00000506497.1:n.*209A>T
ENST00000680163.1:c.4927A>T	ENSP00000505092.1:p.Thr1643Ser
ENST00000680174.1:n.5618A>T
ENST00000680236.1:c.*1988A>T	ENSP00000506212.1:n.*1988A>T
ENST00000680404.1:n.442A>T
ENST00000680441.1:n.3485A>T
ENST00000680497.1:c.5029A>T	ENSP00000505954.1:p.Thr1677Ser
ENST00000680508.1:c.*83A>T	ENSP00000505749.1:n.*83A>T
ENST00000680569.1:c.*2870A>T	ENSP00000505522.1:n.*2870A>T
ENST00000680634.1:n.1435A>T
ENST00000680722.1:n.2727A>T
ENST00000680726.1:c.*209A>T	ENSP00000505505.1:n.*209A>T
ENST00000680759.1:c.4759A>T	ENSP00000505848.1:p.Thr1587Ser
ENST00000680814.1:c.4838+324A>T	ENSP00000505710.1:n.4838+324A>T
ENST00000680828.1:c.*2621A>T	ENSP00000505249.1:n.*2621A>T
ENST00000680861.1:c.4927A>T	ENSP00000505043.1:p.Thr1643Ser
ENST00000680927.1:c.*1107A>T	ENSP00000505473.1:n.*1107A>T
ENST00000680939.1:n.6868A>T
ENST00000681250.1:c.*1644A>T	ENSP00000505684.1:n.*1644A>T
ENST00000681256.1:c.*2942A>T	ENSP00000505446.1:n.*2942A>T
ENST00000681279.1:n.5793A>T
ENST00000681307.1:n.6040A>T
ENST00000681461.1:n.5695A>T
ENST00000681495.1:c.2464A>T	ENSP00000506085.1:p.Thr822Ser
ENST00000681558.1:c.2605A>T	ENSP00000505568.1:p.Thr869Ser
ENST00000681619.1:c.4924A>T	ENSP00000505071.1:p.Thr1642Ser
ENST00000681663.1:n.1833A>T
ENST00000681692.1:n.2887A>T
ENST00000681716.1:c.*2781A>T	ENSP00000505078.1:n.*2781A>T
ENST00000681768.1:c.*2591A>T	ENSP00000506311.1:n.*2591A>T
ENST00000681808.1:c.4750A>T	ENSP00000505219.1:p.Thr1584Ser
ENST00000264276.10:c.4927A>T	ENSP00000264276.6:p.Thr1643Ser
ENST00000439495.5:c.3031A>T
NM_020919.3:c.4927A>T	NP_065970.2:p.Thr1643Ser
XM_005246709.2:c.4924A>T	XP_005246766.1:p.Thr1642Ser
XM_006712654.1:c.4927A>T	XP_006712717.1:p.Thr1643Ser
XM_006712655.2:c.2863A>T	XP_006712718.1:p.Thr955Ser
XM_011511530.1:c.4588A>T	XP_011509832.1:p.Thr1530Ser
XR_922974.1:n.5205A>T
XM_006712654.3:c.4927A>T	XP_006712717.1:p.Thr1643Ser
XM_006712655.3:c.2863A>T	XP_006712718.1:p.Thr955Ser
XM_017004569.2:c.4924A>T	XP_016860058.1:p.Thr1642Ser
XM_017004572.2:c.2545A>T	XP_016860061.1:p.Thr849Ser
XM_024453024.1:c.4588A>T	XP_024308792.1:p.Thr1530Ser
XM_024453025.1:c.2860A>T	XP_024308793.1:p.Thr954Ser
XR_001738864.2:n.5042A>T
XR_001738865.2:n.5039A>T
XR_001738866.2:n.5205A>T
XR_001738867.2:n.5202A>T
XR_002959320.1:n.4098A>T
NM_020919.4:c.4927A>T MANE Select	NP_065970.2:p.Thr1643Ser