Canonical Allele Identifier: CA350319400

Gene: ALS2

Linked Data

• dbSNP Id: rs1690940477
• gnomAD v3: 2-201723399-T-G
• gnomAD v4: 2-201723399-T-G
• MyVariant Identifiers: chr2:g.202588122T>G (hg19) ; chr2:g.201723399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723399T>G , CM000664.2:g.201723399T>G	GRCh38
NC_000002.11:g.202588122T>G , CM000664.1:g.202588122T>G	GRCh37
NC_000002.10:g.202296367T>G	NCBI36
NG_008775.1:g.62774A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.3555A>C MANE Select	ENSP00000264276.6:p.Gln1185His
ENST00000439495.6:c.1233A>C	ENSP00000403832.2:p.Gln411His
ENST00000482891.6:n.4323A>C
ENST00000494017.6:n.1287A>C
ENST00000679409.1:c.1233A>C	ENSP00000506531.1:p.Gln411His
ENST00000679416.1:n.5059A>C
ENST00000679435.1:c.3555A>C	ENSP00000505218.1:p.Gln1185His
ENST00000679516.1:c.3555A>C	ENSP00000505187.1:p.Gln1185His
ENST00000679618.1:c.*643A>C	ENSP00000506274.1:n.*643A>C
ENST00000679630.1:n.5404A>C
ENST00000679686.1:n.3669A>C
ENST00000679701.1:n.6547A>C
ENST00000679916.1:c.3555A>C	ENSP00000506172.1:p.Gln1185His
ENST00000680000.1:c.3555A>C	ENSP00000506173.1:p.Gln1185His
ENST00000680135.1:c.*1519A>C	ENSP00000506211.1:n.*1519A>C
ENST00000680149.1:c.3555A>C	ENSP00000506497.1:p.Gln1185His
ENST00000680163.1:c.3555A>C	ENSP00000505092.1:p.Gln1185His
ENST00000680174.1:n.4246A>C
ENST00000680236.1:c.*616A>C	ENSP00000506212.1:n.*616A>C
ENST00000680497.1:c.3657A>C	ENSP00000505954.1:p.Gln1219His
ENST00000680508.1:c.3555A>C	ENSP00000505749.1:p.Gln1185His
ENST00000680569.1:c.*1266A>C	ENSP00000505522.1:n.*1266A>C
ENST00000680630.1:n.3987A>C
ENST00000680634.1:n.21-2910A>C
ENST00000680722.1:n.1355A>C
ENST00000680723.1:n.4338A>C
ENST00000680726.1:c.3555A>C	ENSP00000505505.1:p.Gln1185His
ENST00000680737.1:n.3826A>C
ENST00000680759.1:c.3555A>C	ENSP00000505848.1:p.Gln1185His
ENST00000680814.1:c.3555A>C	ENSP00000505710.1:p.Gln1185His
ENST00000680828.1:c.*1127A>C	ENSP00000505249.1:n.*1127A>C
ENST00000680861.1:c.3555A>C	ENSP00000505043.1:p.Gln1185His
ENST00000680927.1:c.3555A>C	ENSP00000505473.1:p.Gln1185His
ENST00000680939.1:n.3897A>C
ENST00000681152.1:c.3555A>C	ENSP00000505388.1:p.Gln1185His
ENST00000681250.1:c.*272A>C	ENSP00000505684.1:n.*272A>C
ENST00000681256.1:c.*1573A>C	ENSP00000505446.1:n.*1573A>C
ENST00000681279.1:n.4323A>C
ENST00000681303.1:c.3555A>C	ENSP00000505576.1:p.Gln1185His
ENST00000681307.1:n.4668A>C
ENST00000681461.1:n.4323A>C
ENST00000681495.1:c.1095A>C	ENSP00000506085.1:p.Gln365His
ENST00000681558.1:c.1233A>C	ENSP00000505568.1:p.Gln411His
ENST00000681619.1:c.3555A>C	ENSP00000505071.1:p.Gln1185His
ENST00000681716.1:c.*1266A>C	ENSP00000505078.1:n.*1266A>C
ENST00000681758.1:n.3897A>C
ENST00000681768.1:c.*1219A>C	ENSP00000506311.1:n.*1219A>C
ENST00000681808.1:c.3555A>C	ENSP00000505219.1:p.Gln1185His
ENST00000264276.10:c.3555A>C	ENSP00000264276.6:p.Gln1185His
ENST00000439495.5:c.1516A>C
ENST00000482891.5:n.3695A>C
ENST00000489440.5:n.376A>C
NM_020919.3:c.3555A>C	NP_065970.2:p.Gln1185His
XM_005246709.2:c.3555A>C	XP_005246766.1:p.Gln1185His
XM_006712654.1:c.3555A>C	XP_006712717.1:p.Gln1185His
XM_006712655.2:c.1491A>C	XP_006712718.1:p.Gln497His
XM_011511530.1:c.3216A>C	XP_011509832.1:p.Gln1072His
XM_011511531.1:c.3555A>C	XP_011509833.1:p.Gln1185His
XR_922974.1:n.3690A>C
XM_006712654.3:c.3555A>C	XP_006712717.1:p.Gln1185His
XM_006712655.3:c.1491A>C	XP_006712718.1:p.Gln497His
XM_017004569.2:c.3555A>C	XP_016860058.1:p.Gln1185His
XM_017004570.2:c.3555A>C	XP_016860059.1:p.Gln1185His
XM_017004572.2:c.1173A>C	XP_016860061.1:p.Gln391His
XM_024453024.1:c.3216A>C	XP_024308792.1:p.Gln1072His
XM_024453025.1:c.1491A>C	XP_024308793.1:p.Gln497His
XR_001738864.2:n.3690A>C
XR_001738865.2:n.3690A>C
XR_001738866.2:n.3690A>C
XR_001738867.2:n.3690A>C
XR_002959320.1:n.2746A>C
NM_020919.4:c.3555A>C MANE Select	NP_065970.2:p.Gln1185His