Canonical Allele Identifier: CA350319123

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202587794A>G (hg19) ; chr2:g.201723071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723071A>G , CM000664.2:g.201723071A>G	GRCh38
NC_000002.11:g.202587794A>G , CM000664.1:g.202587794A>G	GRCh37
NC_000002.10:g.202296039A>G	NCBI36
NG_008775.1:g.63102T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3674T>C MANE Select	ENSP00000264276.6:p.Phe1225Ser
ENST00000439495.6:c.1352T>C	ENSP00000403832.2:p.Phe451Ser
ENST00000482891.6:n.4442T>C
ENST00000494017.6:n.1406T>C
ENST00000679409.1:c.1352T>C	ENSP00000506531.1:p.Phe451Ser
ENST00000679416.1:n.5178T>C
ENST00000679435.1:c.3674T>C	ENSP00000505218.1:p.Phe1225Ser
ENST00000679516.1:c.3674T>C	ENSP00000505187.1:p.Phe1225Ser
ENST00000679618.1:c.*762T>C	ENSP00000506274.1:n.*762T>C
ENST00000679630.1:n.5523T>C
ENST00000679686.1:n.3788T>C
ENST00000679701.1:n.6666T>C
ENST00000679916.1:c.3674T>C	ENSP00000506172.1:p.Phe1225Ser
ENST00000680000.1:c.3674T>C	ENSP00000506173.1:p.Phe1225Ser
ENST00000680135.1:c.*1638T>C	ENSP00000506211.1:n.*1638T>C
ENST00000680149.1:c.3674T>C	ENSP00000506497.1:p.Phe1225Ser
ENST00000680163.1:c.3674T>C	ENSP00000505092.1:p.Phe1225Ser
ENST00000680174.1:n.4365T>C
ENST00000680236.1:c.*735T>C	ENSP00000506212.1:n.*735T>C
ENST00000680497.1:c.3776T>C	ENSP00000505954.1:p.Phe1259Ser
ENST00000680508.1:c.3674T>C	ENSP00000505749.1:p.Phe1225Ser
ENST00000680569.1:c.*1385T>C	ENSP00000505522.1:n.*1385T>C
ENST00000680630.1:n.4106T>C
ENST00000680634.1:n.21-2582T>C
ENST00000680722.1:n.1474T>C
ENST00000680723.1:n.4457T>C
ENST00000680726.1:c.3674T>C	ENSP00000505505.1:p.Phe1225Ser
ENST00000680737.1:n.3945T>C
ENST00000680759.1:c.3674T>C	ENSP00000505848.1:p.Phe1225Ser
ENST00000680814.1:c.3674T>C	ENSP00000505710.1:p.Phe1225Ser
ENST00000680828.1:c.*1246T>C	ENSP00000505249.1:n.*1246T>C
ENST00000680861.1:c.3674T>C	ENSP00000505043.1:p.Phe1225Ser
ENST00000680927.1:c.3674T>C	ENSP00000505473.1:p.Phe1225Ser
ENST00000680939.1:n.4016T>C
ENST00000681152.1:c.3674T>C	ENSP00000505388.1:p.Phe1225Ser
ENST00000681250.1:c.*391T>C	ENSP00000505684.1:n.*391T>C
ENST00000681256.1:c.*1692T>C	ENSP00000505446.1:n.*1692T>C
ENST00000681279.1:n.4442T>C
ENST00000681303.1:c.3674T>C	ENSP00000505576.1:p.Phe1225Ser
ENST00000681307.1:n.4787T>C
ENST00000681461.1:n.4442T>C
ENST00000681495.1:c.1214T>C	ENSP00000506085.1:p.Phe405Ser
ENST00000681558.1:c.1352T>C	ENSP00000505568.1:p.Phe451Ser
ENST00000681619.1:c.3674T>C	ENSP00000505071.1:p.Phe1225Ser
ENST00000681716.1:c.*1385T>C	ENSP00000505078.1:n.*1385T>C
ENST00000681758.1:n.4016T>C
ENST00000681768.1:c.*1338T>C	ENSP00000506311.1:n.*1338T>C
ENST00000681808.1:c.3674T>C	ENSP00000505219.1:p.Phe1225Ser
ENST00000264276.10:c.3674T>C	ENSP00000264276.6:p.Phe1225Ser
ENST00000439495.5:c.1635T>C
ENST00000482891.5:n.3814T>C
ENST00000489440.5:n.495T>C
NM_020919.3:c.3674T>C	NP_065970.2:p.Phe1225Ser
XM_005246709.2:c.3674T>C	XP_005246766.1:p.Phe1225Ser
XM_006712654.1:c.3674T>C	XP_006712717.1:p.Phe1225Ser
XM_006712655.2:c.1610T>C	XP_006712718.1:p.Phe537Ser
XM_011511530.1:c.3335T>C	XP_011509832.1:p.Phe1112Ser
XM_011511531.1:c.3674T>C	XP_011509833.1:p.Phe1225Ser
XR_922974.1:n.3809T>C
XM_006712654.3:c.3674T>C	XP_006712717.1:p.Phe1225Ser
XM_006712655.3:c.1610T>C	XP_006712718.1:p.Phe537Ser
XM_017004569.2:c.3674T>C	XP_016860058.1:p.Phe1225Ser
XM_017004570.2:c.3674T>C	XP_016860059.1:p.Phe1225Ser
XM_017004572.2:c.1292T>C	XP_016860061.1:p.Phe431Ser
XM_024453024.1:c.3335T>C	XP_024308792.1:p.Phe1112Ser
XM_024453025.1:c.1610T>C	XP_024308793.1:p.Phe537Ser
XR_001738864.2:n.3809T>C
XR_001738865.2:n.3809T>C
XR_001738866.2:n.3809T>C
XR_001738867.2:n.3809T>C
XR_002959320.1:n.2865T>C
NM_020919.4:c.3674T>C MANE Select	NP_065970.2:p.Phe1225Ser