Canonical Allele Identifier: CA350320673
Community Standard Title: NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu)
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704484G>A , CM000664.2:g.201704484G>A GRCh38
NC_000002.11:g.202569207G>A , CM000664.1:g.202569207G>A GRCh37
NC_000002.10:g.202277452G>A NCBI36
NG_008775.1:g.81689C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4808C>T MANE Select NP_065970.2:p.Pro1603Leu
ENST00000264276.11:c.4808C>T MANE Select ENSP00000264276.6:p.Pro1603Leu
NM_020919.3:c.4808C>T NP_065970.2:p.Pro1603Leu
ENST00000264276.10:c.4808C>T ENSP00000264276.6:p.Pro1603Leu
ENST00000439495.5:c.2912C>T
ENST00000439495.6:c.*988C>T ENSP00000403832.2:n.*988C>T
ENST00000679409.1:c.*1278C>T ENSP00000506531.1:n.*1278C>T
ENST00000679416.1:n.6312C>T
ENST00000679427.1:n.2244C>T
ENST00000679435.1:c.4808C>T ENSP00000505218.1:p.Pro1603Leu
ENST00000679516.1:c.4808C>T ENSP00000505187.1:p.Pro1603Leu
ENST00000679618.1:c.*1896C>T ENSP00000506274.1:n.*1896C>T
ENST00000679630.1:n.6657C>T
ENST00000679635.1:n.2835C>T
ENST00000679686.1:n.4922C>T
ENST00000679701.1:n.7800C>T
ENST00000679916.1:c.*1156C>T ENSP00000506172.1:n.*1156C>T
ENST00000680000.1:c.4808C>T ENSP00000506173.1:p.Pro1603Leu
ENST00000680135.1:c.*2769C>T ENSP00000506211.1:n.*2769C>T
ENST00000680149.1:c.*90C>T ENSP00000506497.1:n.*90C>T
ENST00000680163.1:c.4808C>T ENSP00000505092.1:p.Pro1603Leu
ENST00000680174.1:n.5499C>T
ENST00000680236.1:c.*1869C>T ENSP00000506212.1:n.*1869C>T
ENST00000680404.1:n.323C>T
ENST00000680441.1:n.3366C>T
ENST00000680497.1:c.4910C>T ENSP00000505954.1:p.Pro1637Leu
ENST00000680508.1:c.4805C>T ENSP00000505749.1:p.Pro1602Leu
ENST00000680569.1:c.*2516C>T ENSP00000505522.1:n.*2516C>T
ENST00000680634.1:n.1316C>T
ENST00000680722.1:n.2608C>T
ENST00000680726.1:c.*90C>T ENSP00000505505.1:n.*90C>T
ENST00000680759.1:c.4640C>T ENSP00000505848.1:p.Pro1547Leu
ENST00000680814.1:c.4808C>T ENSP00000505710.1:p.Pro1603Leu
ENST00000680828.1:c.*2502C>T ENSP00000505249.1:n.*2502C>T
ENST00000680861.1:c.4808C>T ENSP00000505043.1:p.Pro1603Leu
ENST00000680927.1:c.*988C>T ENSP00000505473.1:n.*988C>T
ENST00000680939.1:n.6514C>T
ENST00000681250.1:c.*1525C>T ENSP00000505684.1:n.*1525C>T
ENST00000681256.1:c.*2823C>T ENSP00000505446.1:n.*2823C>T
ENST00000681279.1:n.5674C>T
ENST00000681307.1:n.5921C>T
ENST00000681461.1:n.5576C>T
ENST00000681495.1:c.2345C>T ENSP00000506085.1:p.Pro782Leu
ENST00000681558.1:c.2486C>T ENSP00000505568.1:p.Pro829Leu
ENST00000681619.1:c.4805C>T ENSP00000505071.1:p.Pro1602Leu
ENST00000681663.1:n.1714C>T
ENST00000681692.1:n.2768C>T
ENST00000681716.1:c.*2662C>T ENSP00000505078.1:n.*2662C>T
ENST00000681768.1:c.*2472C>T ENSP00000506311.1:n.*2472C>T
ENST00000681808.1:c.4631C>T ENSP00000505219.1:p.Pro1544Leu
XM_005246709.2:c.4805C>T XP_005246766.1:p.Pro1602Leu
XM_006712654.1:c.4808C>T XP_006712717.1:p.Pro1603Leu
XM_006712654.3:c.4808C>T XP_006712717.1:p.Pro1603Leu
XM_006712655.2:c.2744C>T XP_006712718.1:p.Pro915Leu
XM_006712655.3:c.2744C>T XP_006712718.1:p.Pro915Leu
XM_011511530.1:c.4469C>T XP_011509832.1:p.Pro1490Leu
XM_017004569.2:c.4805C>T XP_016860058.1:p.Pro1602Leu
XM_017004572.2:c.2426C>T XP_016860061.1:p.Pro809Leu
XM_024453024.1:c.4469C>T XP_024308792.1:p.Pro1490Leu
XM_024453025.1:c.2741C>T XP_024308793.1:p.Pro914Leu
XR_001738864.2:n.4923C>T
XR_001738865.2:n.4920C>T
XR_001738866.2:n.5086C>T
XR_001738867.2:n.5083C>T
XR_002959320.1:n.3979C>T
XR_922974.1:n.5086C>T