Canonical Allele Identifier: CA430667112

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568901G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704178G>A , CM000664.2:g.201704178G>A	GRCh38
NC_000002.11:g.202568901G>A , CM000664.1:g.202568901G>A	GRCh37
NC_000002.10:g.202277146G>A	NCBI36
NG_008775.1:g.81995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4879C>T MANE Select	ENSP00000264276.6:p.Leu1627=
ENST00000439495.6:c.*1059C>T	ENSP00000403832.2:n.*1059C>T
ENST00000679409.1:c.*1584C>T	ENSP00000506531.1:n.*1584C>T
ENST00000679416.1:n.6383C>T
ENST00000679427.1:n.2550C>T
ENST00000679435.1:c.4879C>T	ENSP00000505218.1:p.Leu1627=
ENST00000679516.1:c.4879C>T	ENSP00000505187.1:p.Leu1627=
ENST00000679618.1:c.*1967C>T	ENSP00000506274.1:n.*1967C>T
ENST00000679630.1:n.6728C>T
ENST00000679635.1:n.3141C>T
ENST00000679686.1:n.4993C>T
ENST00000679701.1:n.7871C>T
ENST00000679916.1:c.*1227C>T	ENSP00000506172.1:n.*1227C>T
ENST00000680000.1:c.4879C>T	ENSP00000506173.1:p.Leu1627=
ENST00000680135.1:c.*2840C>T	ENSP00000506211.1:n.*2840C>T
ENST00000680149.1:c.*161C>T	ENSP00000506497.1:n.*161C>T
ENST00000680163.1:c.4879C>T	ENSP00000505092.1:p.Leu1627=
ENST00000680174.1:n.5570C>T
ENST00000680236.1:c.*1940C>T	ENSP00000506212.1:n.*1940C>T
ENST00000680404.1:n.394C>T
ENST00000680441.1:n.3437C>T
ENST00000680497.1:c.4981C>T	ENSP00000505954.1:p.Leu1661=
ENST00000680508.1:c.*35C>T	ENSP00000505749.1:n.*35C>T
ENST00000680569.1:c.*2822C>T	ENSP00000505522.1:n.*2822C>T
ENST00000680634.1:n.1387C>T
ENST00000680722.1:n.2679C>T
ENST00000680726.1:c.*161C>T	ENSP00000505505.1:n.*161C>T
ENST00000680759.1:c.4711C>T	ENSP00000505848.1:p.Leu1571=
ENST00000680814.1:c.4838+276C>T	ENSP00000505710.1:n.4838+276C>T
ENST00000680828.1:c.*2573C>T	ENSP00000505249.1:n.*2573C>T
ENST00000680861.1:c.4879C>T	ENSP00000505043.1:p.Leu1627=
ENST00000680927.1:c.*1059C>T	ENSP00000505473.1:n.*1059C>T
ENST00000680939.1:n.6820C>T
ENST00000681250.1:c.*1596C>T	ENSP00000505684.1:n.*1596C>T
ENST00000681256.1:c.*2894C>T	ENSP00000505446.1:n.*2894C>T
ENST00000681279.1:n.5745C>T
ENST00000681307.1:n.5992C>T
ENST00000681461.1:n.5647C>T
ENST00000681495.1:c.2416C>T	ENSP00000506085.1:p.Leu806=
ENST00000681558.1:c.2557C>T	ENSP00000505568.1:p.Leu853=
ENST00000681619.1:c.4876C>T	ENSP00000505071.1:p.Leu1626=
ENST00000681663.1:n.1785C>T
ENST00000681692.1:n.2839C>T
ENST00000681716.1:c.*2733C>T	ENSP00000505078.1:n.*2733C>T
ENST00000681768.1:c.*2543C>T	ENSP00000506311.1:n.*2543C>T
ENST00000681808.1:c.4702C>T	ENSP00000505219.1:p.Leu1568=
ENST00000264276.10:c.4879C>T	ENSP00000264276.6:p.Leu1627=
ENST00000439495.5:c.2983C>T
NM_020919.3:c.4879C>T	NP_065970.2:p.Leu1627=
XM_005246709.2:c.4876C>T	XP_005246766.1:p.Leu1626=
XM_006712654.1:c.4879C>T	XP_006712717.1:p.Leu1627=
XM_006712655.2:c.2815C>T	XP_006712718.1:p.Leu939=
XM_011511530.1:c.4540C>T	XP_011509832.1:p.Leu1514=
XR_922974.1:n.5157C>T
XM_006712654.3:c.4879C>T	XP_006712717.1:p.Leu1627=
XM_006712655.3:c.2815C>T	XP_006712718.1:p.Leu939=
XM_017004569.2:c.4876C>T	XP_016860058.1:p.Leu1626=
XM_017004572.2:c.2497C>T	XP_016860061.1:p.Leu833=
XM_024453024.1:c.4540C>T	XP_024308792.1:p.Leu1514=
XM_024453025.1:c.2812C>T	XP_024308793.1:p.Leu938=
XR_001738864.2:n.4994C>T
XR_001738865.2:n.4991C>T
XR_001738866.2:n.5157C>T
XR_001738867.2:n.5154C>T
XR_002959320.1:n.4050C>T
NM_020919.4:c.4879C>T MANE Select	NP_065970.2:p.Leu1627=