Canonical Allele Identifier: CA10612446

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201701746T>G , CM000664.2:g.201701746T>G	GRCh38
NC_000002.11:g.202566469T>G , CM000664.1:g.202566469T>G	GRCh37
NC_000002.10:g.202274714T>G	NCBI36
NG_008775.1:g.84427A>C
NG_012654.1:g.1949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.*105A>C MANE Select	ENSP00000264276.6:n.*105A>C
ENST00000439495.6:c.*1259A>C	ENSP00000403832.2:n.*1259A>C
ENST00000679409.1:c.*4016A>C	ENSP00000506531.1:n.*4016A>C
ENST00000679416.1:n.6583A>C
ENST00000679427.1:n.4982A>C
ENST00000679435.1:c.*105A>C	ENSP00000505218.1:n.*105A>C
ENST00000679516.1:c.*105A>C	ENSP00000505187.1:n.*105A>C
ENST00000679618.1:c.*2167A>C	ENSP00000506274.1:n.*2167A>C
ENST00000679630.1:n.6928A>C
ENST00000679635.1:n.3341A>C
ENST00000679686.1:n.5193A>C
ENST00000679701.1:n.8071A>C
ENST00000679916.1:c.*1427A>C	ENSP00000506172.1:n.*1427A>C
ENST00000680135.1:c.*3040A>C	ENSP00000506211.1:n.*3040A>C
ENST00000680149.1:c.*361A>C	ENSP00000506497.1:n.*361A>C
ENST00000680163.1:c.*105A>C	ENSP00000505092.1:n.*105A>C
ENST00000680174.1:n.5770A>C
ENST00000680236.1:c.*2140A>C	ENSP00000506212.1:n.*2140A>C
ENST00000680404.1:n.2826A>C
ENST00000680441.1:n.3637A>C
ENST00000680497.1:c.*105A>C	ENSP00000505954.1:n.*105A>C
ENST00000680508.1:c.*235A>C	ENSP00000505749.1:n.*235A>C
ENST00000680569.1:c.*3022A>C	ENSP00000505522.1:n.*3022A>C
ENST00000680634.1:n.1587A>C
ENST00000680722.1:n.2879A>C
ENST00000680726.1:c.*361A>C	ENSP00000505505.1:n.*361A>C
ENST00000680759.1:c.*105A>C	ENSP00000505848.1:n.*105A>C
ENST00000680814.1:c.4839-608A>C	ENSP00000505710.1:n.4839-608A>C
ENST00000680828.1:c.*2773A>C	ENSP00000505249.1:n.*2773A>C
ENST00000680861.1:c.*105A>C	ENSP00000505043.1:n.*105A>C
ENST00000680927.1:c.*1259A>C	ENSP00000505473.1:n.*1259A>C
ENST00000681250.1:c.*1796A>C	ENSP00000505684.1:n.*1796A>C
ENST00000681256.1:c.*3094A>C	ENSP00000505446.1:n.*3094A>C
ENST00000681279.1:n.5945A>C
ENST00000681307.1:n.6192A>C
ENST00000681461.1:n.5847A>C
ENST00000681495.1:c.*105A>C	ENSP00000506085.1:n.*105A>C
ENST00000681558.1:c.*105A>C	ENSP00000505568.1:n.*105A>C
ENST00000681619.1:c.*105A>C	ENSP00000505071.1:n.*105A>C
ENST00000681663.1:n.1985A>C
ENST00000681692.1:n.3039A>C
ENST00000681716.1:c.*2933A>C	ENSP00000505078.1:n.*2933A>C
ENST00000681768.1:c.*2743A>C	ENSP00000506311.1:n.*2743A>C
ENST00000681808.1:c.*105A>C	ENSP00000505219.1:n.*105A>C
ENST00000264276.10:c.*105A>C	ENSP00000264276.6:n.*105A>C
ENST00000439495.5:c.3183A>C
NM_020919.3:c.*105A>C	NP_065970.2:n.*105A>C
XM_005246709.2:c.*105A>C	XP_005246766.1:n.*105A>C
XM_006712654.1:c.*105A>C	XP_006712717.1:n.*105A>C
XM_006712655.2:c.*105A>C	XP_006712718.1:n.*105A>C
XM_011511530.1:c.*105A>C	XP_011509832.1:n.*105A>C
XR_922974.1:n.5357A>C
XM_006712654.3:c.*105A>C	XP_006712717.1:n.*105A>C
XM_006712655.3:c.*105A>C	XP_006712718.1:n.*105A>C
XM_017004569.2:c.*105A>C	XP_016860058.1:n.*105A>C
XM_017004572.2:c.*105A>C	XP_016860061.1:n.*105A>C
XM_024453024.1:c.*105A>C	XP_024308792.1:n.*105A>C
XM_024453025.1:c.*105A>C	XP_024308793.1:n.*105A>C
XR_001738864.2:n.5194A>C
XR_001738865.2:n.5191A>C
XR_001738866.2:n.5357A>C
XR_001738867.2:n.5354A>C
XR_002959320.1:n.4250A>C
NM_020919.4:c.*105A>C MANE Select	NP_065970.2:n.*105A>C