Canonical Allele Identifier: CA350320440

Gene: ALS2

Linked Data

• gnomAD v4: 2-201704195-A-G
• MyVariant Identifiers: chr2:g.202568918A>G (hg19) ; chr2:g.201704195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704195A>G , CM000664.2:g.201704195A>G	GRCh38
NC_000002.11:g.202568918A>G , CM000664.1:g.202568918A>G	GRCh37
NC_000002.10:g.202277163A>G	NCBI36
NG_008775.1:g.81978T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4862T>C MANE Select	ENSP00000264276.6:p.Val1621Ala
ENST00000439495.6:c.*1042T>C	ENSP00000403832.2:n.*1042T>C
ENST00000679409.1:c.*1567T>C	ENSP00000506531.1:n.*1567T>C
ENST00000679416.1:n.6366T>C
ENST00000679427.1:n.2533T>C
ENST00000679435.1:c.4862T>C	ENSP00000505218.1:p.Val1621Ala
ENST00000679516.1:c.4862T>C	ENSP00000505187.1:p.Val1621Ala
ENST00000679618.1:c.*1950T>C	ENSP00000506274.1:n.*1950T>C
ENST00000679630.1:n.6711T>C
ENST00000679635.1:n.3124T>C
ENST00000679686.1:n.4976T>C
ENST00000679701.1:n.7854T>C
ENST00000679916.1:c.*1210T>C	ENSP00000506172.1:n.*1210T>C
ENST00000680000.1:c.4862T>C	ENSP00000506173.1:p.Val1621Ala
ENST00000680135.1:c.*2823T>C	ENSP00000506211.1:n.*2823T>C
ENST00000680149.1:c.*144T>C	ENSP00000506497.1:n.*144T>C
ENST00000680163.1:c.4862T>C	ENSP00000505092.1:p.Val1621Ala
ENST00000680174.1:n.5553T>C
ENST00000680236.1:c.*1923T>C	ENSP00000506212.1:n.*1923T>C
ENST00000680404.1:n.377T>C
ENST00000680441.1:n.3420T>C
ENST00000680497.1:c.4964T>C	ENSP00000505954.1:p.Val1655Ala
ENST00000680508.1:c.*18T>C	ENSP00000505749.1:n.*18T>C
ENST00000680569.1:c.*2805T>C	ENSP00000505522.1:n.*2805T>C
ENST00000680634.1:n.1370T>C
ENST00000680722.1:n.2662T>C
ENST00000680726.1:c.*144T>C	ENSP00000505505.1:n.*144T>C
ENST00000680759.1:c.4694T>C	ENSP00000505848.1:p.Val1565Ala
ENST00000680814.1:c.4838+259T>C	ENSP00000505710.1:n.4838+259T>C
ENST00000680828.1:c.*2556T>C	ENSP00000505249.1:n.*2556T>C
ENST00000680861.1:c.4862T>C	ENSP00000505043.1:p.Val1621Ala
ENST00000680927.1:c.*1042T>C	ENSP00000505473.1:n.*1042T>C
ENST00000680939.1:n.6803T>C
ENST00000681250.1:c.*1579T>C	ENSP00000505684.1:n.*1579T>C
ENST00000681256.1:c.*2877T>C	ENSP00000505446.1:n.*2877T>C
ENST00000681279.1:n.5728T>C
ENST00000681307.1:n.5975T>C
ENST00000681461.1:n.5630T>C
ENST00000681495.1:c.2399T>C	ENSP00000506085.1:p.Val800Ala
ENST00000681558.1:c.2540T>C	ENSP00000505568.1:p.Val847Ala
ENST00000681619.1:c.4859T>C	ENSP00000505071.1:p.Val1620Ala
ENST00000681663.1:n.1768T>C
ENST00000681692.1:n.2822T>C
ENST00000681716.1:c.*2716T>C	ENSP00000505078.1:n.*2716T>C
ENST00000681768.1:c.*2526T>C	ENSP00000506311.1:n.*2526T>C
ENST00000681808.1:c.4685T>C	ENSP00000505219.1:p.Val1562Ala
ENST00000264276.10:c.4862T>C	ENSP00000264276.6:p.Val1621Ala
ENST00000439495.5:c.2966T>C
NM_020919.3:c.4862T>C	NP_065970.2:p.Val1621Ala
XM_005246709.2:c.4859T>C	XP_005246766.1:p.Val1620Ala
XM_006712654.1:c.4862T>C	XP_006712717.1:p.Val1621Ala
XM_006712655.2:c.2798T>C	XP_006712718.1:p.Val933Ala
XM_011511530.1:c.4523T>C	XP_011509832.1:p.Val1508Ala
XR_922974.1:n.5140T>C
XM_006712654.3:c.4862T>C	XP_006712717.1:p.Val1621Ala
XM_006712655.3:c.2798T>C	XP_006712718.1:p.Val933Ala
XM_017004569.2:c.4859T>C	XP_016860058.1:p.Val1620Ala
XM_017004572.2:c.2480T>C	XP_016860061.1:p.Val827Ala
XM_024453024.1:c.4523T>C	XP_024308792.1:p.Val1508Ala
XM_024453025.1:c.2795T>C	XP_024308793.1:p.Val932Ala
XR_001738864.2:n.4977T>C
XR_001738865.2:n.4974T>C
XR_001738866.2:n.5140T>C
XR_001738867.2:n.5137T>C
XR_002959320.1:n.4033T>C
NM_020919.4:c.4862T>C MANE Select	NP_065970.2:p.Val1621Ala