Canonical Allele Identifier: CA350320384

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568896C>A (hg19) ; chr2:g.201704173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704173C>A , CM000664.2:g.201704173C>A	GRCh38
NC_000002.11:g.202568896C>A , CM000664.1:g.202568896C>A	GRCh37
NC_000002.10:g.202277141C>A	NCBI36
NG_008775.1:g.82000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4884G>T MANE Select	ENSP00000264276.6:p.Met1628Ile
ENST00000439495.6:c.*1064G>T	ENSP00000403832.2:n.*1064G>T
ENST00000679409.1:c.*1589G>T	ENSP00000506531.1:n.*1589G>T
ENST00000679416.1:n.6388G>T
ENST00000679427.1:n.2555G>T
ENST00000679435.1:c.4884G>T	ENSP00000505218.1:p.Met1628Ile
ENST00000679516.1:c.4884G>T	ENSP00000505187.1:p.Met1628Ile
ENST00000679618.1:c.*1972G>T	ENSP00000506274.1:n.*1972G>T
ENST00000679630.1:n.6733G>T
ENST00000679635.1:n.3146G>T
ENST00000679686.1:n.4998G>T
ENST00000679701.1:n.7876G>T
ENST00000679916.1:c.*1232G>T	ENSP00000506172.1:n.*1232G>T
ENST00000680000.1:c.4884G>T	ENSP00000506173.1:p.Met1628Ile
ENST00000680135.1:c.*2845G>T	ENSP00000506211.1:n.*2845G>T
ENST00000680149.1:c.*166G>T	ENSP00000506497.1:n.*166G>T
ENST00000680163.1:c.4884G>T	ENSP00000505092.1:p.Met1628Ile
ENST00000680174.1:n.5575G>T
ENST00000680236.1:c.*1945G>T	ENSP00000506212.1:n.*1945G>T
ENST00000680404.1:n.399G>T
ENST00000680441.1:n.3442G>T
ENST00000680497.1:c.4986G>T	ENSP00000505954.1:p.Met1662Ile
ENST00000680508.1:c.*40G>T	ENSP00000505749.1:n.*40G>T
ENST00000680569.1:c.*2827G>T	ENSP00000505522.1:n.*2827G>T
ENST00000680634.1:n.1392G>T
ENST00000680722.1:n.2684G>T
ENST00000680726.1:c.*166G>T	ENSP00000505505.1:n.*166G>T
ENST00000680759.1:c.4716G>T	ENSP00000505848.1:p.Met1572Ile
ENST00000680814.1:c.4838+281G>T	ENSP00000505710.1:n.4838+281G>T
ENST00000680828.1:c.*2578G>T	ENSP00000505249.1:n.*2578G>T
ENST00000680861.1:c.4884G>T	ENSP00000505043.1:p.Met1628Ile
ENST00000680927.1:c.*1064G>T	ENSP00000505473.1:n.*1064G>T
ENST00000680939.1:n.6825G>T
ENST00000681250.1:c.*1601G>T	ENSP00000505684.1:n.*1601G>T
ENST00000681256.1:c.*2899G>T	ENSP00000505446.1:n.*2899G>T
ENST00000681279.1:n.5750G>T
ENST00000681307.1:n.5997G>T
ENST00000681461.1:n.5652G>T
ENST00000681495.1:c.2421G>T	ENSP00000506085.1:p.Met807Ile
ENST00000681558.1:c.2562G>T	ENSP00000505568.1:p.Met854Ile
ENST00000681619.1:c.4881G>T	ENSP00000505071.1:p.Met1627Ile
ENST00000681663.1:n.1790G>T
ENST00000681692.1:n.2844G>T
ENST00000681716.1:c.*2738G>T	ENSP00000505078.1:n.*2738G>T
ENST00000681768.1:c.*2548G>T	ENSP00000506311.1:n.*2548G>T
ENST00000681808.1:c.4707G>T	ENSP00000505219.1:p.Met1569Ile
ENST00000264276.10:c.4884G>T	ENSP00000264276.6:p.Met1628Ile
ENST00000439495.5:c.2988G>T
NM_020919.3:c.4884G>T	NP_065970.2:p.Met1628Ile
XM_005246709.2:c.4881G>T	XP_005246766.1:p.Met1627Ile
XM_006712654.1:c.4884G>T	XP_006712717.1:p.Met1628Ile
XM_006712655.2:c.2820G>T	XP_006712718.1:p.Met940Ile
XM_011511530.1:c.4545G>T	XP_011509832.1:p.Met1515Ile
XR_922974.1:n.5162G>T
XM_006712654.3:c.4884G>T	XP_006712717.1:p.Met1628Ile
XM_006712655.3:c.2820G>T	XP_006712718.1:p.Met940Ile
XM_017004569.2:c.4881G>T	XP_016860058.1:p.Met1627Ile
XM_017004572.2:c.2502G>T	XP_016860061.1:p.Met834Ile
XM_024453024.1:c.4545G>T	XP_024308792.1:p.Met1515Ile
XM_024453025.1:c.2817G>T	XP_024308793.1:p.Met939Ile
XR_001738864.2:n.4999G>T
XR_001738865.2:n.4996G>T
XR_001738866.2:n.5162G>T
XR_001738867.2:n.5159G>T
XR_002959320.1:n.4055G>T
NM_020919.4:c.4884G>T MANE Select	NP_065970.2:p.Met1628Ile