Canonical Allele Identifier: CA430667122

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568908A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704185A>G , CM000664.2:g.201704185A>G	GRCh38
NC_000002.11:g.202568908A>G , CM000664.1:g.202568908A>G	GRCh37
NC_000002.10:g.202277153A>G	NCBI36
NG_008775.1:g.81988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4872T>C MANE Select	ENSP00000264276.6:p.Ile1624=
ENST00000439495.6:c.*1052T>C	ENSP00000403832.2:n.*1052T>C
ENST00000679409.1:c.*1577T>C	ENSP00000506531.1:n.*1577T>C
ENST00000679416.1:n.6376T>C
ENST00000679427.1:n.2543T>C
ENST00000679435.1:c.4872T>C	ENSP00000505218.1:p.Ile1624=
ENST00000679516.1:c.4872T>C	ENSP00000505187.1:p.Ile1624=
ENST00000679618.1:c.*1960T>C	ENSP00000506274.1:n.*1960T>C
ENST00000679630.1:n.6721T>C
ENST00000679635.1:n.3134T>C
ENST00000679686.1:n.4986T>C
ENST00000679701.1:n.7864T>C
ENST00000679916.1:c.*1220T>C	ENSP00000506172.1:n.*1220T>C
ENST00000680000.1:c.4872T>C	ENSP00000506173.1:p.Ile1624=
ENST00000680135.1:c.*2833T>C	ENSP00000506211.1:n.*2833T>C
ENST00000680149.1:c.*154T>C	ENSP00000506497.1:n.*154T>C
ENST00000680163.1:c.4872T>C	ENSP00000505092.1:p.Ile1624=
ENST00000680174.1:n.5563T>C
ENST00000680236.1:c.*1933T>C	ENSP00000506212.1:n.*1933T>C
ENST00000680404.1:n.387T>C
ENST00000680441.1:n.3430T>C
ENST00000680497.1:c.4974T>C	ENSP00000505954.1:p.Ile1658=
ENST00000680508.1:c.*28T>C	ENSP00000505749.1:n.*28T>C
ENST00000680569.1:c.*2815T>C	ENSP00000505522.1:n.*2815T>C
ENST00000680634.1:n.1380T>C
ENST00000680722.1:n.2672T>C
ENST00000680726.1:c.*154T>C	ENSP00000505505.1:n.*154T>C
ENST00000680759.1:c.4704T>C	ENSP00000505848.1:p.Ile1568=
ENST00000680814.1:c.4838+269T>C	ENSP00000505710.1:n.4838+269T>C
ENST00000680828.1:c.*2566T>C	ENSP00000505249.1:n.*2566T>C
ENST00000680861.1:c.4872T>C	ENSP00000505043.1:p.Ile1624=
ENST00000680927.1:c.*1052T>C	ENSP00000505473.1:n.*1052T>C
ENST00000680939.1:n.6813T>C
ENST00000681250.1:c.*1589T>C	ENSP00000505684.1:n.*1589T>C
ENST00000681256.1:c.*2887T>C	ENSP00000505446.1:n.*2887T>C
ENST00000681279.1:n.5738T>C
ENST00000681307.1:n.5985T>C
ENST00000681461.1:n.5640T>C
ENST00000681495.1:c.2409T>C	ENSP00000506085.1:p.Ile803=
ENST00000681558.1:c.2550T>C	ENSP00000505568.1:p.Ile850=
ENST00000681619.1:c.4869T>C	ENSP00000505071.1:p.Ile1623=
ENST00000681663.1:n.1778T>C
ENST00000681692.1:n.2832T>C
ENST00000681716.1:c.*2726T>C	ENSP00000505078.1:n.*2726T>C
ENST00000681768.1:c.*2536T>C	ENSP00000506311.1:n.*2536T>C
ENST00000681808.1:c.4695T>C	ENSP00000505219.1:p.Ile1565=
ENST00000264276.10:c.4872T>C	ENSP00000264276.6:p.Ile1624=
ENST00000439495.5:c.2976T>C
NM_020919.3:c.4872T>C	NP_065970.2:p.Ile1624=
XM_005246709.2:c.4869T>C	XP_005246766.1:p.Ile1623=
XM_006712654.1:c.4872T>C	XP_006712717.1:p.Ile1624=
XM_006712655.2:c.2808T>C	XP_006712718.1:p.Ile936=
XM_011511530.1:c.4533T>C	XP_011509832.1:p.Ile1511=
XR_922974.1:n.5150T>C
XM_006712654.3:c.4872T>C	XP_006712717.1:p.Ile1624=
XM_006712655.3:c.2808T>C	XP_006712718.1:p.Ile936=
XM_017004569.2:c.4869T>C	XP_016860058.1:p.Ile1623=
XM_017004572.2:c.2490T>C	XP_016860061.1:p.Ile830=
XM_024453024.1:c.4533T>C	XP_024308792.1:p.Ile1511=
XM_024453025.1:c.2805T>C	XP_024308793.1:p.Ile935=
XR_001738864.2:n.4987T>C
XR_001738865.2:n.4984T>C
XR_001738866.2:n.5150T>C
XR_001738867.2:n.5147T>C
XR_002959320.1:n.4043T>C
NM_020919.4:c.4872T>C MANE Select	NP_065970.2:p.Ile1624=