Canonical Allele Identifier: CA350320476

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568929T>A (hg19) ; chr2:g.201704206T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704206T>A , CM000664.2:g.201704206T>A	GRCh38
NC_000002.11:g.202568929T>A , CM000664.1:g.202568929T>A	GRCh37
NC_000002.10:g.202277174T>A	NCBI36
NG_008775.1:g.81967A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4851A>T MANE Select	ENSP00000264276.6:p.Leu1617Phe
ENST00000439495.6:c.*1031A>T	ENSP00000403832.2:n.*1031A>T
ENST00000679409.1:c.*1556A>T	ENSP00000506531.1:n.*1556A>T
ENST00000679416.1:n.6355A>T
ENST00000679427.1:n.2522A>T
ENST00000679435.1:c.4851A>T	ENSP00000505218.1:p.Leu1617Phe
ENST00000679516.1:c.4851A>T	ENSP00000505187.1:p.Leu1617Phe
ENST00000679618.1:c.*1939A>T	ENSP00000506274.1:n.*1939A>T
ENST00000679630.1:n.6700A>T
ENST00000679635.1:n.3113A>T
ENST00000679686.1:n.4965A>T
ENST00000679701.1:n.7843A>T
ENST00000679916.1:c.*1199A>T	ENSP00000506172.1:n.*1199A>T
ENST00000680000.1:c.4851A>T	ENSP00000506173.1:p.Leu1617Phe
ENST00000680135.1:c.*2812A>T	ENSP00000506211.1:n.*2812A>T
ENST00000680149.1:c.*133A>T	ENSP00000506497.1:n.*133A>T
ENST00000680163.1:c.4851A>T	ENSP00000505092.1:p.Leu1617Phe
ENST00000680174.1:n.5542A>T
ENST00000680236.1:c.*1912A>T	ENSP00000506212.1:n.*1912A>T
ENST00000680404.1:n.366A>T
ENST00000680441.1:n.3409A>T
ENST00000680497.1:c.4953A>T	ENSP00000505954.1:p.Leu1651Phe
ENST00000680508.1:c.*7A>T	ENSP00000505749.1:n.*7A>T
ENST00000680569.1:c.*2794A>T	ENSP00000505522.1:n.*2794A>T
ENST00000680634.1:n.1359A>T
ENST00000680722.1:n.2651A>T
ENST00000680726.1:c.*133A>T	ENSP00000505505.1:n.*133A>T
ENST00000680759.1:c.4683A>T	ENSP00000505848.1:p.Leu1561Phe
ENST00000680814.1:c.4838+248A>T	ENSP00000505710.1:n.4838+248A>T
ENST00000680828.1:c.*2545A>T	ENSP00000505249.1:n.*2545A>T
ENST00000680861.1:c.4851A>T	ENSP00000505043.1:p.Leu1617Phe
ENST00000680927.1:c.*1031A>T	ENSP00000505473.1:n.*1031A>T
ENST00000680939.1:n.6792A>T
ENST00000681250.1:c.*1568A>T	ENSP00000505684.1:n.*1568A>T
ENST00000681256.1:c.*2866A>T	ENSP00000505446.1:n.*2866A>T
ENST00000681279.1:n.5717A>T
ENST00000681307.1:n.5964A>T
ENST00000681461.1:n.5619A>T
ENST00000681495.1:c.2388A>T	ENSP00000506085.1:p.Leu796Phe
ENST00000681558.1:c.2529A>T	ENSP00000505568.1:p.Leu843Phe
ENST00000681619.1:c.4848A>T	ENSP00000505071.1:p.Leu1616Phe
ENST00000681663.1:n.1757A>T
ENST00000681692.1:n.2811A>T
ENST00000681716.1:c.*2705A>T	ENSP00000505078.1:n.*2705A>T
ENST00000681768.1:c.*2515A>T	ENSP00000506311.1:n.*2515A>T
ENST00000681808.1:c.4674A>T	ENSP00000505219.1:p.Leu1558Phe
ENST00000264276.10:c.4851A>T	ENSP00000264276.6:p.Leu1617Phe
ENST00000439495.5:c.2955A>T
NM_020919.3:c.4851A>T	NP_065970.2:p.Leu1617Phe
XM_005246709.2:c.4848A>T	XP_005246766.1:p.Leu1616Phe
XM_006712654.1:c.4851A>T	XP_006712717.1:p.Leu1617Phe
XM_006712655.2:c.2787A>T	XP_006712718.1:p.Leu929Phe
XM_011511530.1:c.4512A>T	XP_011509832.1:p.Leu1504Phe
XR_922974.1:n.5129A>T
XM_006712654.3:c.4851A>T	XP_006712717.1:p.Leu1617Phe
XM_006712655.3:c.2787A>T	XP_006712718.1:p.Leu929Phe
XM_017004569.2:c.4848A>T	XP_016860058.1:p.Leu1616Phe
XM_017004572.2:c.2469A>T	XP_016860061.1:p.Leu823Phe
XM_024453024.1:c.4512A>T	XP_024308792.1:p.Leu1504Phe
XM_024453025.1:c.2784A>T	XP_024308793.1:p.Leu928Phe
XR_001738864.2:n.4966A>T
XR_001738865.2:n.4963A>T
XR_001738866.2:n.5129A>T
XR_001738867.2:n.5126A>T
XR_002959320.1:n.4022A>T
NM_020919.4:c.4851A>T MANE Select	NP_065970.2:p.Leu1617Phe