Canonical Allele Identifier: CA350321038

Gene: ALS2

Linked Data

• dbSNP Id: rs2105963813
• gnomAD v4: 2-201704577-A-C
• MyVariant Identifiers: chr2:g.202569300A>C (hg19) ; chr2:g.201704577A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704577A>C , CM000664.2:g.201704577A>C	GRCh38
NC_000002.11:g.202569300A>C , CM000664.1:g.202569300A>C	GRCh37
NC_000002.10:g.202277545A>C	NCBI36
NG_008775.1:g.81596T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4715T>G MANE Select	ENSP00000264276.6:p.Leu1572Arg
ENST00000439495.6:c.*895T>G	ENSP00000403832.2:n.*895T>G
ENST00000679409.1:c.*1185T>G	ENSP00000506531.1:n.*1185T>G
ENST00000679416.1:n.6219T>G
ENST00000679427.1:n.2151T>G
ENST00000679435.1:c.4715T>G	ENSP00000505218.1:p.Leu1572Arg
ENST00000679516.1:c.4715T>G	ENSP00000505187.1:p.Leu1572Arg
ENST00000679618.1:c.*1803T>G	ENSP00000506274.1:n.*1803T>G
ENST00000679630.1:n.6564T>G
ENST00000679635.1:n.2742T>G
ENST00000679686.1:n.4829T>G
ENST00000679701.1:n.7707T>G
ENST00000679916.1:c.*1063T>G	ENSP00000506172.1:n.*1063T>G
ENST00000680000.1:c.4715T>G	ENSP00000506173.1:p.Leu1572Arg
ENST00000680135.1:c.*2676T>G	ENSP00000506211.1:n.*2676T>G
ENST00000680149.1:c.4692T>G	ENSP00000506497.1:p.Thr1564=
ENST00000680163.1:c.4715T>G	ENSP00000505092.1:p.Leu1572Arg
ENST00000680174.1:n.5406T>G
ENST00000680236.1:c.*1776T>G	ENSP00000506212.1:n.*1776T>G
ENST00000680404.1:n.230T>G
ENST00000680441.1:n.3273T>G
ENST00000680497.1:c.4817T>G	ENSP00000505954.1:p.Leu1606Arg
ENST00000680508.1:c.4712T>G	ENSP00000505749.1:p.Leu1571Arg
ENST00000680569.1:c.*2423T>G	ENSP00000505522.1:n.*2423T>G
ENST00000680634.1:n.1223T>G
ENST00000680722.1:n.2515T>G
ENST00000680726.1:c.4695T>G	ENSP00000505505.1:p.Thr1565=
ENST00000680759.1:c.4547T>G	ENSP00000505848.1:p.Leu1516Arg
ENST00000680814.1:c.4715T>G	ENSP00000505710.1:p.Leu1572Arg
ENST00000680828.1:c.*2409T>G	ENSP00000505249.1:n.*2409T>G
ENST00000680861.1:c.4715T>G	ENSP00000505043.1:p.Leu1572Arg
ENST00000680927.1:c.*895T>G	ENSP00000505473.1:n.*895T>G
ENST00000680939.1:n.6421T>G
ENST00000681250.1:c.*1432T>G	ENSP00000505684.1:n.*1432T>G
ENST00000681256.1:c.*2730T>G	ENSP00000505446.1:n.*2730T>G
ENST00000681279.1:n.5581T>G
ENST00000681307.1:n.5828T>G
ENST00000681461.1:n.5483T>G
ENST00000681495.1:c.2252T>G	ENSP00000506085.1:p.Leu751Arg
ENST00000681558.1:c.2393T>G	ENSP00000505568.1:p.Leu798Arg
ENST00000681619.1:c.4712T>G	ENSP00000505071.1:p.Leu1571Arg
ENST00000681663.1:n.1621T>G
ENST00000681692.1:n.2675T>G
ENST00000681716.1:c.*2569T>G	ENSP00000505078.1:n.*2569T>G
ENST00000681768.1:c.*2379T>G	ENSP00000506311.1:n.*2379T>G
ENST00000681808.1:c.4538T>G	ENSP00000505219.1:p.Leu1513Arg
ENST00000264276.10:c.4715T>G	ENSP00000264276.6:p.Leu1572Arg
ENST00000439495.5:c.2819T>G
NM_020919.3:c.4715T>G	NP_065970.2:p.Leu1572Arg
XM_005246709.2:c.4712T>G	XP_005246766.1:p.Leu1571Arg
XM_006712654.1:c.4715T>G	XP_006712717.1:p.Leu1572Arg
XM_006712655.2:c.2651T>G	XP_006712718.1:p.Leu884Arg
XM_011511530.1:c.4376T>G	XP_011509832.1:p.Leu1459Arg
XR_922974.1:n.4993T>G
XM_006712654.3:c.4715T>G	XP_006712717.1:p.Leu1572Arg
XM_006712655.3:c.2651T>G	XP_006712718.1:p.Leu884Arg
XM_017004569.2:c.4712T>G	XP_016860058.1:p.Leu1571Arg
XM_017004572.2:c.2333T>G	XP_016860061.1:p.Leu778Arg
XM_024453024.1:c.4376T>G	XP_024308792.1:p.Leu1459Arg
XM_024453025.1:c.2648T>G	XP_024308793.1:p.Leu883Arg
XR_001738864.2:n.4830T>G
XR_001738865.2:n.4827T>G
XR_001738866.2:n.4993T>G
XR_001738867.2:n.4990T>G
XR_002959320.1:n.3886T>G
NM_020919.4:c.4715T>G MANE Select	NP_065970.2:p.Leu1572Arg