Canonical Allele Identifier: CA350320504

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568935C>G (hg19) ; chr2:g.201704212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704212C>G , CM000664.2:g.201704212C>G	GRCh38
NC_000002.11:g.202568935C>G , CM000664.1:g.202568935C>G	GRCh37
NC_000002.10:g.202277180C>G	NCBI36
NG_008775.1:g.81961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4845G>C MANE Select	ENSP00000264276.6:p.Arg1615Ser
ENST00000439495.6:c.*1025G>C	ENSP00000403832.2:n.*1025G>C
ENST00000679409.1:c.*1550G>C	ENSP00000506531.1:n.*1550G>C
ENST00000679416.1:n.6349G>C
ENST00000679427.1:n.2516G>C
ENST00000679435.1:c.4845G>C	ENSP00000505218.1:p.Arg1615Ser
ENST00000679516.1:c.4845G>C	ENSP00000505187.1:p.Arg1615Ser
ENST00000679618.1:c.*1933G>C	ENSP00000506274.1:n.*1933G>C
ENST00000679630.1:n.6694G>C
ENST00000679635.1:n.3107G>C
ENST00000679686.1:n.4959G>C
ENST00000679701.1:n.7837G>C
ENST00000679916.1:c.*1193G>C	ENSP00000506172.1:n.*1193G>C
ENST00000680000.1:c.4845G>C	ENSP00000506173.1:p.Arg1615Ser
ENST00000680135.1:c.*2806G>C	ENSP00000506211.1:n.*2806G>C
ENST00000680149.1:c.*127G>C	ENSP00000506497.1:n.*127G>C
ENST00000680163.1:c.4845G>C	ENSP00000505092.1:p.Arg1615Ser
ENST00000680174.1:n.5536G>C
ENST00000680236.1:c.*1906G>C	ENSP00000506212.1:n.*1906G>C
ENST00000680404.1:n.360G>C
ENST00000680441.1:n.3403G>C
ENST00000680497.1:c.4947G>C	ENSP00000505954.1:p.Arg1649Ser
ENST00000680508.1:c.*1G>C	ENSP00000505749.1:n.*1G>C
ENST00000680569.1:c.*2788G>C	ENSP00000505522.1:n.*2788G>C
ENST00000680634.1:n.1353G>C
ENST00000680722.1:n.2645G>C
ENST00000680726.1:c.*127G>C	ENSP00000505505.1:n.*127G>C
ENST00000680759.1:c.4677G>C	ENSP00000505848.1:p.Arg1559Ser
ENST00000680814.1:c.4838+242G>C	ENSP00000505710.1:n.4838+242G>C
ENST00000680828.1:c.*2539G>C	ENSP00000505249.1:n.*2539G>C
ENST00000680861.1:c.4845G>C	ENSP00000505043.1:p.Arg1615Ser
ENST00000680927.1:c.*1025G>C	ENSP00000505473.1:n.*1025G>C
ENST00000680939.1:n.6786G>C
ENST00000681250.1:c.*1562G>C	ENSP00000505684.1:n.*1562G>C
ENST00000681256.1:c.*2860G>C	ENSP00000505446.1:n.*2860G>C
ENST00000681279.1:n.5711G>C
ENST00000681307.1:n.5958G>C
ENST00000681461.1:n.5613G>C
ENST00000681495.1:c.2382G>C	ENSP00000506085.1:p.Arg794Ser
ENST00000681558.1:c.2523G>C	ENSP00000505568.1:p.Arg841Ser
ENST00000681619.1:c.4842G>C	ENSP00000505071.1:p.Arg1614Ser
ENST00000681663.1:n.1751G>C
ENST00000681692.1:n.2805G>C
ENST00000681716.1:c.*2699G>C	ENSP00000505078.1:n.*2699G>C
ENST00000681768.1:c.*2509G>C	ENSP00000506311.1:n.*2509G>C
ENST00000681808.1:c.4668G>C	ENSP00000505219.1:p.Arg1556Ser
ENST00000264276.10:c.4845G>C	ENSP00000264276.6:p.Arg1615Ser
ENST00000439495.5:c.2949G>C
NM_020919.3:c.4845G>C	NP_065970.2:p.Arg1615Ser
XM_005246709.2:c.4842G>C	XP_005246766.1:p.Arg1614Ser
XM_006712654.1:c.4845G>C	XP_006712717.1:p.Arg1615Ser
XM_006712655.2:c.2781G>C	XP_006712718.1:p.Arg927Ser
XM_011511530.1:c.4506G>C	XP_011509832.1:p.Arg1502Ser
XR_922974.1:n.5123G>C
XM_006712654.3:c.4845G>C	XP_006712717.1:p.Arg1615Ser
XM_006712655.3:c.2781G>C	XP_006712718.1:p.Arg927Ser
XM_017004569.2:c.4842G>C	XP_016860058.1:p.Arg1614Ser
XM_017004572.2:c.2463G>C	XP_016860061.1:p.Arg821Ser
XM_024453024.1:c.4506G>C	XP_024308792.1:p.Arg1502Ser
XM_024453025.1:c.2778G>C	XP_024308793.1:p.Arg926Ser
XR_001738864.2:n.4960G>C
XR_001738865.2:n.4957G>C
XR_001738866.2:n.5123G>C
XR_001738867.2:n.5120G>C
XR_002959320.1:n.4016G>C
NM_020919.4:c.4845G>C MANE Select	NP_065970.2:p.Arg1615Ser