Canonical Allele Identifier: CA350320492

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568933T>G (hg19) ; chr2:g.201704210T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704210T>G , CM000664.2:g.201704210T>G	GRCh38
NC_000002.11:g.202568933T>G , CM000664.1:g.202568933T>G	GRCh37
NC_000002.10:g.202277178T>G	NCBI36
NG_008775.1:g.81963A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4847A>C MANE Select	ENSP00000264276.6:p.Asn1616Thr
ENST00000439495.6:c.*1027A>C	ENSP00000403832.2:n.*1027A>C
ENST00000679409.1:c.*1552A>C	ENSP00000506531.1:n.*1552A>C
ENST00000679416.1:n.6351A>C
ENST00000679427.1:n.2518A>C
ENST00000679435.1:c.4847A>C	ENSP00000505218.1:p.Asn1616Thr
ENST00000679516.1:c.4847A>C	ENSP00000505187.1:p.Asn1616Thr
ENST00000679618.1:c.*1935A>C	ENSP00000506274.1:n.*1935A>C
ENST00000679630.1:n.6696A>C
ENST00000679635.1:n.3109A>C
ENST00000679686.1:n.4961A>C
ENST00000679701.1:n.7839A>C
ENST00000679916.1:c.*1195A>C	ENSP00000506172.1:n.*1195A>C
ENST00000680000.1:c.4847A>C	ENSP00000506173.1:p.Asn1616Thr
ENST00000680135.1:c.*2808A>C	ENSP00000506211.1:n.*2808A>C
ENST00000680149.1:c.*129A>C	ENSP00000506497.1:n.*129A>C
ENST00000680163.1:c.4847A>C	ENSP00000505092.1:p.Asn1616Thr
ENST00000680174.1:n.5538A>C
ENST00000680236.1:c.*1908A>C	ENSP00000506212.1:n.*1908A>C
ENST00000680404.1:n.362A>C
ENST00000680441.1:n.3405A>C
ENST00000680497.1:c.4949A>C	ENSP00000505954.1:p.Asn1650Thr
ENST00000680508.1:c.*3A>C	ENSP00000505749.1:n.*3A>C
ENST00000680569.1:c.*2790A>C	ENSP00000505522.1:n.*2790A>C
ENST00000680634.1:n.1355A>C
ENST00000680722.1:n.2647A>C
ENST00000680726.1:c.*129A>C	ENSP00000505505.1:n.*129A>C
ENST00000680759.1:c.4679A>C	ENSP00000505848.1:p.Asn1560Thr
ENST00000680814.1:c.4838+244A>C	ENSP00000505710.1:n.4838+244A>C
ENST00000680828.1:c.*2541A>C	ENSP00000505249.1:n.*2541A>C
ENST00000680861.1:c.4847A>C	ENSP00000505043.1:p.Asn1616Thr
ENST00000680927.1:c.*1027A>C	ENSP00000505473.1:n.*1027A>C
ENST00000680939.1:n.6788A>C
ENST00000681250.1:c.*1564A>C	ENSP00000505684.1:n.*1564A>C
ENST00000681256.1:c.*2862A>C	ENSP00000505446.1:n.*2862A>C
ENST00000681279.1:n.5713A>C
ENST00000681307.1:n.5960A>C
ENST00000681461.1:n.5615A>C
ENST00000681495.1:c.2384A>C	ENSP00000506085.1:p.Asn795Thr
ENST00000681558.1:c.2525A>C	ENSP00000505568.1:p.Asn842Thr
ENST00000681619.1:c.4844A>C	ENSP00000505071.1:p.Asn1615Thr
ENST00000681663.1:n.1753A>C
ENST00000681692.1:n.2807A>C
ENST00000681716.1:c.*2701A>C	ENSP00000505078.1:n.*2701A>C
ENST00000681768.1:c.*2511A>C	ENSP00000506311.1:n.*2511A>C
ENST00000681808.1:c.4670A>C	ENSP00000505219.1:p.Asn1557Thr
ENST00000264276.10:c.4847A>C	ENSP00000264276.6:p.Asn1616Thr
ENST00000439495.5:c.2951A>C
NM_020919.3:c.4847A>C	NP_065970.2:p.Asn1616Thr
XM_005246709.2:c.4844A>C	XP_005246766.1:p.Asn1615Thr
XM_006712654.1:c.4847A>C	XP_006712717.1:p.Asn1616Thr
XM_006712655.2:c.2783A>C	XP_006712718.1:p.Asn928Thr
XM_011511530.1:c.4508A>C	XP_011509832.1:p.Asn1503Thr
XR_922974.1:n.5125A>C
XM_006712654.3:c.4847A>C	XP_006712717.1:p.Asn1616Thr
XM_006712655.3:c.2783A>C	XP_006712718.1:p.Asn928Thr
XM_017004569.2:c.4844A>C	XP_016860058.1:p.Asn1615Thr
XM_017004572.2:c.2465A>C	XP_016860061.1:p.Asn822Thr
XM_024453024.1:c.4508A>C	XP_024308792.1:p.Asn1503Thr
XM_024453025.1:c.2780A>C	XP_024308793.1:p.Asn927Thr
XR_001738864.2:n.4962A>C
XR_001738865.2:n.4959A>C
XR_001738866.2:n.5125A>C
XR_001738867.2:n.5122A>C
XR_002959320.1:n.4018A>C
NM_020919.4:c.4847A>C MANE Select	NP_065970.2:p.Asn1616Thr