Canonical Allele Identifier: CA350325062

Gene: ALS2

Linked Data

• ClinVar Variation Id: 2005241
• ClinVar RCV Id: RCV002820881
• gnomAD v4: 2-201744340-G-C
• MyVariant Identifiers: chr2:g.202609063G>C (hg19) ; chr2:g.201744340G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201744340G>C , CM000664.2:g.201744340G>C	GRCh38
NC_000002.11:g.202609063G>C , CM000664.1:g.202609063G>C	GRCh37
NC_000002.10:g.202317308G>C	NCBI36
NG_008775.1:g.41833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.2088C>G MANE Select	ENSP00000264276.6:p.His696Gln
ENST00000482789.6:n.2430C>G
ENST00000482891.6:n.2430C>G
ENST00000679416.1:n.2430C>G
ENST00000679435.1:c.2088C>G	ENSP00000505218.1:p.His696Gln
ENST00000679516.1:c.2088C>G	ENSP00000505187.1:p.His696Gln
ENST00000679549.1:n.1317C>G
ENST00000679550.1:c.2088C>G	ENSP00000506193.1:p.His696Gln
ENST00000679618.1:c.2088C>G	ENSP00000506274.1:p.His696Gln
ENST00000679630.1:n.2430C>G
ENST00000679686.1:n.2202C>G
ENST00000679701.1:n.2430C>G
ENST00000679916.1:c.2088C>G	ENSP00000506172.1:p.His696Gln
ENST00000679939.1:c.2088C>G	ENSP00000505704.1:p.His696Gln
ENST00000679949.1:c.2040C>G	ENSP00000505232.1:p.His680Gln
ENST00000680000.1:c.2088C>G	ENSP00000506173.1:p.His696Gln
ENST00000680135.1:c.*52C>G	ENSP00000506211.1:n.*52C>G
ENST00000680149.1:c.2088C>G	ENSP00000506497.1:p.His696Gln
ENST00000680163.1:c.2088C>G	ENSP00000505092.1:p.His696Gln
ENST00000680174.1:n.2368C>G
ENST00000680236.1:c.2088C>G	ENSP00000506212.1:p.His696Gln
ENST00000680287.1:c.2088C>G	ENSP00000506547.1:p.His696Gln
ENST00000680497.1:c.2190C>G	ENSP00000505954.1:p.His730Gln
ENST00000680508.1:c.2088C>G	ENSP00000505749.1:p.His696Gln
ENST00000680569.1:c.2088C>G	ENSP00000505522.1:p.His696Gln
ENST00000680630.1:n.2430C>G
ENST00000680644.1:c.*599C>G	ENSP00000505738.1:n.*599C>G
ENST00000680726.1:c.2088C>G	ENSP00000505505.1:p.His696Gln
ENST00000680737.1:n.2430C>G
ENST00000680759.1:c.2088C>G	ENSP00000505848.1:p.His696Gln
ENST00000680814.1:c.2088C>G	ENSP00000505710.1:p.His696Gln
ENST00000680828.1:c.2088C>G	ENSP00000505249.1:p.His696Gln
ENST00000680861.1:c.2088C>G	ENSP00000505043.1:p.His696Gln
ENST00000680927.1:c.2088C>G	ENSP00000505473.1:p.His696Gln
ENST00000680939.1:n.2430C>G
ENST00000681152.1:c.2088C>G	ENSP00000505388.1:p.His696Gln
ENST00000681250.1:c.1471+13062C>G	ENSP00000505684.1:n.1471+13062C>G
ENST00000681256.1:c.1998+2226C>G	ENSP00000505446.1:n.1998+2226C>G
ENST00000681279.1:n.2430C>G
ENST00000681303.1:c.2088C>G	ENSP00000505576.1:p.His696Gln
ENST00000681307.1:n.2430C>G
ENST00000681461.1:n.2430C>G
ENST00000681619.1:c.2088C>G	ENSP00000505071.1:p.His696Gln
ENST00000681716.1:c.2088C>G	ENSP00000505078.1:p.His696Gln
ENST00000681758.1:n.2430C>G
ENST00000681768.1:c.2088C>G	ENSP00000506311.1:p.His696Gln
ENST00000681808.1:c.2088C>G	ENSP00000505219.1:p.His696Gln
ENST00000264276.10:c.2088C>G	ENSP00000264276.6:p.His696Gln
ENST00000439495.5:c.49C>G
ENST00000482789.5:n.2228C>G
ENST00000482891.5:n.2228C>G
NM_020919.3:c.2088C>G	NP_065970.2:p.His696Gln
XM_005246709.2:c.2088C>G	XP_005246766.1:p.His696Gln
XM_006712654.1:c.2088C>G	XP_006712717.1:p.His696Gln
XM_006712655.2:c.24C>G	XP_006712718.1:p.His8Gln
XM_011511530.1:c.1749C>G	XP_011509832.1:p.His583Gln
XM_011511531.1:c.2088C>G	XP_011509833.1:p.His696Gln
XR_922974.1:n.2223C>G
XM_006712654.3:c.2088C>G	XP_006712717.1:p.His696Gln
XM_006712655.3:c.24C>G	XP_006712718.1:p.His8Gln
XM_017004569.2:c.2088C>G	XP_016860058.1:p.His696Gln
XM_017004570.2:c.2088C>G	XP_016860059.1:p.His696Gln
XM_017004572.2:c.-398C>G	XP_016860061.1:n.-398C>G
XM_024453024.1:c.1749C>G	XP_024308792.1:p.His583Gln
XM_024453025.1:c.24C>G	XP_024308793.1:p.His8Gln
XR_001738864.2:n.2223C>G
XR_001738865.2:n.2223C>G
XR_001738866.2:n.2223C>G
XR_001738867.2:n.2223C>G
XR_002959320.1:n.1279C>G
NM_020919.4:c.2088C>G MANE Select	NP_065970.2:p.His696Gln