Canonical Allele Identifier: CA350320380

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568895C>A (hg19) ; chr2:g.201704172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704172C>A , CM000664.2:g.201704172C>A	GRCh38
NC_000002.11:g.202568895C>A , CM000664.1:g.202568895C>A	GRCh37
NC_000002.10:g.202277140C>A	NCBI36
NG_008775.1:g.82001G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4885G>T MANE Select	ENSP00000264276.6:p.Asp1629Tyr
ENST00000439495.6:c.*1065G>T	ENSP00000403832.2:n.*1065G>T
ENST00000679409.1:c.*1590G>T	ENSP00000506531.1:n.*1590G>T
ENST00000679416.1:n.6389G>T
ENST00000679427.1:n.2556G>T
ENST00000679435.1:c.4885G>T	ENSP00000505218.1:p.Asp1629Tyr
ENST00000679516.1:c.4885G>T	ENSP00000505187.1:p.Asp1629Tyr
ENST00000679618.1:c.*1973G>T	ENSP00000506274.1:n.*1973G>T
ENST00000679630.1:n.6734G>T
ENST00000679635.1:n.3147G>T
ENST00000679686.1:n.4999G>T
ENST00000679701.1:n.7877G>T
ENST00000679916.1:c.*1233G>T	ENSP00000506172.1:n.*1233G>T
ENST00000680000.1:c.4885G>T	ENSP00000506173.1:p.Asp1629Tyr
ENST00000680135.1:c.*2846G>T	ENSP00000506211.1:n.*2846G>T
ENST00000680149.1:c.*167G>T	ENSP00000506497.1:n.*167G>T
ENST00000680163.1:c.4885G>T	ENSP00000505092.1:p.Asp1629Tyr
ENST00000680174.1:n.5576G>T
ENST00000680236.1:c.*1946G>T	ENSP00000506212.1:n.*1946G>T
ENST00000680404.1:n.400G>T
ENST00000680441.1:n.3443G>T
ENST00000680497.1:c.4987G>T	ENSP00000505954.1:p.Asp1663Tyr
ENST00000680508.1:c.*41G>T	ENSP00000505749.1:n.*41G>T
ENST00000680569.1:c.*2828G>T	ENSP00000505522.1:n.*2828G>T
ENST00000680634.1:n.1393G>T
ENST00000680722.1:n.2685G>T
ENST00000680726.1:c.*167G>T	ENSP00000505505.1:n.*167G>T
ENST00000680759.1:c.4717G>T	ENSP00000505848.1:p.Asp1573Tyr
ENST00000680814.1:c.4838+282G>T	ENSP00000505710.1:n.4838+282G>T
ENST00000680828.1:c.*2579G>T	ENSP00000505249.1:n.*2579G>T
ENST00000680861.1:c.4885G>T	ENSP00000505043.1:p.Asp1629Tyr
ENST00000680927.1:c.*1065G>T	ENSP00000505473.1:n.*1065G>T
ENST00000680939.1:n.6826G>T
ENST00000681250.1:c.*1602G>T	ENSP00000505684.1:n.*1602G>T
ENST00000681256.1:c.*2900G>T	ENSP00000505446.1:n.*2900G>T
ENST00000681279.1:n.5751G>T
ENST00000681307.1:n.5998G>T
ENST00000681461.1:n.5653G>T
ENST00000681495.1:c.2422G>T	ENSP00000506085.1:p.Asp808Tyr
ENST00000681558.1:c.2563G>T	ENSP00000505568.1:p.Asp855Tyr
ENST00000681619.1:c.4882G>T	ENSP00000505071.1:p.Asp1628Tyr
ENST00000681663.1:n.1791G>T
ENST00000681692.1:n.2845G>T
ENST00000681716.1:c.*2739G>T	ENSP00000505078.1:n.*2739G>T
ENST00000681768.1:c.*2549G>T	ENSP00000506311.1:n.*2549G>T
ENST00000681808.1:c.4708G>T	ENSP00000505219.1:p.Asp1570Tyr
ENST00000264276.10:c.4885G>T	ENSP00000264276.6:p.Asp1629Tyr
ENST00000439495.5:c.2989G>T
NM_020919.3:c.4885G>T	NP_065970.2:p.Asp1629Tyr
XM_005246709.2:c.4882G>T	XP_005246766.1:p.Asp1628Tyr
XM_006712654.1:c.4885G>T	XP_006712717.1:p.Asp1629Tyr
XM_006712655.2:c.2821G>T	XP_006712718.1:p.Asp941Tyr
XM_011511530.1:c.4546G>T	XP_011509832.1:p.Asp1516Tyr
XR_922974.1:n.5163G>T
XM_006712654.3:c.4885G>T	XP_006712717.1:p.Asp1629Tyr
XM_006712655.3:c.2821G>T	XP_006712718.1:p.Asp941Tyr
XM_017004569.2:c.4882G>T	XP_016860058.1:p.Asp1628Tyr
XM_017004572.2:c.2503G>T	XP_016860061.1:p.Asp835Tyr
XM_024453024.1:c.4546G>T	XP_024308792.1:p.Asp1516Tyr
XM_024453025.1:c.2818G>T	XP_024308793.1:p.Asp940Tyr
XR_001738864.2:n.5000G>T
XR_001738865.2:n.4997G>T
XR_001738866.2:n.5163G>T
XR_001738867.2:n.5160G>T
XR_002959320.1:n.4056G>T
NM_020919.4:c.4885G>T MANE Select	NP_065970.2:p.Asp1629Tyr