Canonical Allele Identifier: CA350320145

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568848C>A (hg19) ; chr2:g.201704125C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704125C>A , CM000664.2:g.201704125C>A	GRCh38
NC_000002.11:g.202568848C>A , CM000664.1:g.202568848C>A	GRCh37
NC_000002.10:g.202277093C>A	NCBI36
NG_008775.1:g.82048G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4932G>T MANE Select	ENSP00000264276.6:p.Leu1644Phe
ENST00000439495.6:c.*1112G>T	ENSP00000403832.2:n.*1112G>T
ENST00000679409.1:c.*1637G>T	ENSP00000506531.1:n.*1637G>T
ENST00000679416.1:n.6436G>T
ENST00000679427.1:n.2603G>T
ENST00000679435.1:c.4932G>T	ENSP00000505218.1:p.Leu1644Phe
ENST00000679516.1:c.4932G>T	ENSP00000505187.1:p.Leu1644Phe
ENST00000679618.1:c.*2020G>T	ENSP00000506274.1:n.*2020G>T
ENST00000679630.1:n.6781G>T
ENST00000679635.1:n.3194G>T
ENST00000679686.1:n.5046G>T
ENST00000679701.1:n.7924G>T
ENST00000679916.1:c.*1280G>T	ENSP00000506172.1:n.*1280G>T
ENST00000680000.1:c.4932G>T	ENSP00000506173.1:p.Leu1644Phe
ENST00000680135.1:c.*2893G>T	ENSP00000506211.1:n.*2893G>T
ENST00000680149.1:c.*214G>T	ENSP00000506497.1:n.*214G>T
ENST00000680163.1:c.4932G>T	ENSP00000505092.1:p.Leu1644Phe
ENST00000680174.1:n.5623G>T
ENST00000680236.1:c.*1993G>T	ENSP00000506212.1:n.*1993G>T
ENST00000680404.1:n.447G>T
ENST00000680441.1:n.3490G>T
ENST00000680497.1:c.5034G>T	ENSP00000505954.1:p.Leu1678Phe
ENST00000680508.1:c.*88G>T	ENSP00000505749.1:n.*88G>T
ENST00000680569.1:c.*2875G>T	ENSP00000505522.1:n.*2875G>T
ENST00000680634.1:n.1440G>T
ENST00000680722.1:n.2732G>T
ENST00000680726.1:c.*214G>T	ENSP00000505505.1:n.*214G>T
ENST00000680759.1:c.4764G>T	ENSP00000505848.1:p.Leu1588Phe
ENST00000680814.1:c.4838+329G>T	ENSP00000505710.1:n.4838+329G>T
ENST00000680828.1:c.*2626G>T	ENSP00000505249.1:n.*2626G>T
ENST00000680861.1:c.4932G>T	ENSP00000505043.1:p.Leu1644Phe
ENST00000680927.1:c.*1112G>T	ENSP00000505473.1:n.*1112G>T
ENST00000680939.1:n.6873G>T
ENST00000681250.1:c.*1649G>T	ENSP00000505684.1:n.*1649G>T
ENST00000681256.1:c.*2947G>T	ENSP00000505446.1:n.*2947G>T
ENST00000681279.1:n.5798G>T
ENST00000681307.1:n.6045G>T
ENST00000681461.1:n.5700G>T
ENST00000681495.1:c.2469G>T	ENSP00000506085.1:p.Leu823Phe
ENST00000681558.1:c.2610G>T	ENSP00000505568.1:p.Leu870Phe
ENST00000681619.1:c.4929G>T	ENSP00000505071.1:p.Leu1643Phe
ENST00000681663.1:n.1838G>T
ENST00000681692.1:n.2892G>T
ENST00000681716.1:c.*2786G>T	ENSP00000505078.1:n.*2786G>T
ENST00000681768.1:c.*2596G>T	ENSP00000506311.1:n.*2596G>T
ENST00000681808.1:c.4755G>T	ENSP00000505219.1:p.Leu1585Phe
ENST00000264276.10:c.4932G>T	ENSP00000264276.6:p.Leu1644Phe
ENST00000439495.5:c.3036G>T
NM_020919.3:c.4932G>T	NP_065970.2:p.Leu1644Phe
XM_005246709.2:c.4929G>T	XP_005246766.1:p.Leu1643Phe
XM_006712654.1:c.4932G>T	XP_006712717.1:p.Leu1644Phe
XM_006712655.2:c.2868G>T	XP_006712718.1:p.Leu956Phe
XM_011511530.1:c.4593G>T	XP_011509832.1:p.Leu1531Phe
XR_922974.1:n.5210G>T
XM_006712654.3:c.4932G>T	XP_006712717.1:p.Leu1644Phe
XM_006712655.3:c.2868G>T	XP_006712718.1:p.Leu956Phe
XM_017004569.2:c.4929G>T	XP_016860058.1:p.Leu1643Phe
XM_017004572.2:c.2550G>T	XP_016860061.1:p.Leu850Phe
XM_024453024.1:c.4593G>T	XP_024308792.1:p.Leu1531Phe
XM_024453025.1:c.2865G>T	XP_024308793.1:p.Leu955Phe
XR_001738864.2:n.5047G>T
XR_001738865.2:n.5044G>T
XR_001738866.2:n.5210G>T
XR_001738867.2:n.5207G>T
XR_002959320.1:n.4103G>T
NM_020919.4:c.4932G>T MANE Select	NP_065970.2:p.Leu1644Phe