Canonical Allele Identifier: CA350320239

Gene: ALS2

Linked Data

• gnomAD v4: 2-201704144-C-G
• MyVariant Identifiers: chr2:g.202568867C>G (hg19) ; chr2:g.201704144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704144C>G , CM000664.2:g.201704144C>G	GRCh38
NC_000002.11:g.202568867C>G , CM000664.1:g.202568867C>G	GRCh37
NC_000002.10:g.202277112C>G	NCBI36
NG_008775.1:g.82029G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4913G>C MANE Select	ENSP00000264276.6:p.Gly1638Ala
ENST00000439495.6:c.*1093G>C	ENSP00000403832.2:n.*1093G>C
ENST00000679409.1:c.*1618G>C	ENSP00000506531.1:n.*1618G>C
ENST00000679416.1:n.6417G>C
ENST00000679427.1:n.2584G>C
ENST00000679435.1:c.4913G>C	ENSP00000505218.1:p.Gly1638Ala
ENST00000679516.1:c.4913G>C	ENSP00000505187.1:p.Gly1638Ala
ENST00000679618.1:c.*2001G>C	ENSP00000506274.1:n.*2001G>C
ENST00000679630.1:n.6762G>C
ENST00000679635.1:n.3175G>C
ENST00000679686.1:n.5027G>C
ENST00000679701.1:n.7905G>C
ENST00000679916.1:c.*1261G>C	ENSP00000506172.1:n.*1261G>C
ENST00000680000.1:c.4913G>C	ENSP00000506173.1:p.Gly1638Ala
ENST00000680135.1:c.*2874G>C	ENSP00000506211.1:n.*2874G>C
ENST00000680149.1:c.*195G>C	ENSP00000506497.1:n.*195G>C
ENST00000680163.1:c.4913G>C	ENSP00000505092.1:p.Gly1638Ala
ENST00000680174.1:n.5604G>C
ENST00000680236.1:c.*1974G>C	ENSP00000506212.1:n.*1974G>C
ENST00000680404.1:n.428G>C
ENST00000680441.1:n.3471G>C
ENST00000680497.1:c.5015G>C	ENSP00000505954.1:p.Gly1672Ala
ENST00000680508.1:c.*69G>C	ENSP00000505749.1:n.*69G>C
ENST00000680569.1:c.*2856G>C	ENSP00000505522.1:n.*2856G>C
ENST00000680634.1:n.1421G>C
ENST00000680722.1:n.2713G>C
ENST00000680726.1:c.*195G>C	ENSP00000505505.1:n.*195G>C
ENST00000680759.1:c.4745G>C	ENSP00000505848.1:p.Gly1582Ala
ENST00000680814.1:c.4838+310G>C	ENSP00000505710.1:n.4838+310G>C
ENST00000680828.1:c.*2607G>C	ENSP00000505249.1:n.*2607G>C
ENST00000680861.1:c.4913G>C	ENSP00000505043.1:p.Gly1638Ala
ENST00000680927.1:c.*1093G>C	ENSP00000505473.1:n.*1093G>C
ENST00000680939.1:n.6854G>C
ENST00000681250.1:c.*1630G>C	ENSP00000505684.1:n.*1630G>C
ENST00000681256.1:c.*2928G>C	ENSP00000505446.1:n.*2928G>C
ENST00000681279.1:n.5779G>C
ENST00000681307.1:n.6026G>C
ENST00000681461.1:n.5681G>C
ENST00000681495.1:c.2450G>C	ENSP00000506085.1:p.Gly817Ala
ENST00000681558.1:c.2591G>C	ENSP00000505568.1:p.Gly864Ala
ENST00000681619.1:c.4910G>C	ENSP00000505071.1:p.Gly1637Ala
ENST00000681663.1:n.1819G>C
ENST00000681692.1:n.2873G>C
ENST00000681716.1:c.*2767G>C	ENSP00000505078.1:n.*2767G>C
ENST00000681768.1:c.*2577G>C	ENSP00000506311.1:n.*2577G>C
ENST00000681808.1:c.4736G>C	ENSP00000505219.1:p.Gly1579Ala
ENST00000264276.10:c.4913G>C	ENSP00000264276.6:p.Gly1638Ala
ENST00000439495.5:c.3017G>C
NM_020919.3:c.4913G>C	NP_065970.2:p.Gly1638Ala
XM_005246709.2:c.4910G>C	XP_005246766.1:p.Gly1637Ala
XM_006712654.1:c.4913G>C	XP_006712717.1:p.Gly1638Ala
XM_006712655.2:c.2849G>C	XP_006712718.1:p.Gly950Ala
XM_011511530.1:c.4574G>C	XP_011509832.1:p.Gly1525Ala
XR_922974.1:n.5191G>C
XM_006712654.3:c.4913G>C	XP_006712717.1:p.Gly1638Ala
XM_006712655.3:c.2849G>C	XP_006712718.1:p.Gly950Ala
XM_017004569.2:c.4910G>C	XP_016860058.1:p.Gly1637Ala
XM_017004572.2:c.2531G>C	XP_016860061.1:p.Gly844Ala
XM_024453024.1:c.4574G>C	XP_024308792.1:p.Gly1525Ala
XM_024453025.1:c.2846G>C	XP_024308793.1:p.Gly949Ala
XR_001738864.2:n.5028G>C
XR_001738865.2:n.5025G>C
XR_001738866.2:n.5191G>C
XR_001738867.2:n.5188G>C
XR_002959320.1:n.4084G>C
NM_020919.4:c.4913G>C MANE Select	NP_065970.2:p.Gly1638Ala