Canonical Allele Identifier: CA538950376

Gene: ALS2

Linked Data

• dbSNP Id: rs1377247865
• gnomAD v2: 2-202568968-G-A
• gnomAD v4: 2-201704245-G-A
• MyVariant Identifiers: chr2:g.202568968G>A (hg19) ; chr2:g.201704245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704245G>A , CM000664.2:g.201704245G>A	GRCh38
NC_000002.11:g.202568968G>A , CM000664.1:g.202568968G>A	GRCh37
NC_000002.10:g.202277213G>A	NCBI36
NG_008775.1:g.81928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4839-27C>T MANE Select	ENSP00000264276.6:n.4839-27C>T
ENST00000439495.6:c.*1019-27C>T	ENSP00000403832.2:n.*1019-27C>T
ENST00000679409.1:c.*1517C>T	ENSP00000506531.1:n.*1517C>T
ENST00000679416.1:n.6343-27C>T
ENST00000679427.1:n.2483C>T
ENST00000679435.1:c.4839-27C>T	ENSP00000505218.1:n.4839-27C>T
ENST00000679516.1:c.4839-27C>T	ENSP00000505187.1:n.4839-27C>T
ENST00000679618.1:c.*1927-27C>T	ENSP00000506274.1:n.*1927-27C>T
ENST00000679630.1:n.6688-27C>T
ENST00000679635.1:n.3074C>T
ENST00000679686.1:n.4953-27C>T
ENST00000679701.1:n.7831-27C>T
ENST00000679916.1:c.*1187-27C>T	ENSP00000506172.1:n.*1187-27C>T
ENST00000680000.1:c.4839-27C>T	ENSP00000506173.1:n.4839-27C>T
ENST00000680135.1:c.*2800-27C>T	ENSP00000506211.1:n.*2800-27C>T
ENST00000680149.1:c.*121-27C>T	ENSP00000506497.1:n.*121-27C>T
ENST00000680163.1:c.4839-27C>T	ENSP00000505092.1:n.4839-27C>T
ENST00000680174.1:n.5530-27C>T
ENST00000680236.1:c.*1900-27C>T	ENSP00000506212.1:n.*1900-27C>T
ENST00000680404.1:n.354-27C>T
ENST00000680441.1:n.3397-27C>T
ENST00000680497.1:c.4941-27C>T	ENSP00000505954.1:n.4941-27C>T
ENST00000680508.1:c.4836-5C>T	ENSP00000505749.1:n.4836-5C>T
ENST00000680569.1:c.*2755C>T	ENSP00000505522.1:n.*2755C>T
ENST00000680634.1:n.1347-27C>T
ENST00000680722.1:n.2639-27C>T
ENST00000680726.1:c.*121-27C>T	ENSP00000505505.1:n.*121-27C>T
ENST00000680759.1:c.4671-27C>T	ENSP00000505848.1:n.4671-27C>T
ENST00000680814.1:c.4838+209C>T	ENSP00000505710.1:n.4838+209C>T
ENST00000680828.1:c.*2533-27C>T	ENSP00000505249.1:n.*2533-27C>T
ENST00000680861.1:c.4839-27C>T	ENSP00000505043.1:n.4839-27C>T
ENST00000680927.1:c.*1019-27C>T	ENSP00000505473.1:n.*1019-27C>T
ENST00000680939.1:n.6753C>T
ENST00000681250.1:c.*1556-27C>T	ENSP00000505684.1:n.*1556-27C>T
ENST00000681256.1:c.*2854-27C>T	ENSP00000505446.1:n.*2854-27C>T
ENST00000681279.1:n.5705-27C>T
ENST00000681307.1:n.5952-27C>T
ENST00000681461.1:n.5607-27C>T
ENST00000681495.1:c.2376-27C>T	ENSP00000506085.1:n.2376-27C>T
ENST00000681558.1:c.2517-27C>T	ENSP00000505568.1:n.2517-27C>T
ENST00000681619.1:c.4836-27C>T	ENSP00000505071.1:n.4836-27C>T
ENST00000681663.1:n.1745-27C>T
ENST00000681692.1:n.2799-27C>T
ENST00000681716.1:c.*2693-27C>T	ENSP00000505078.1:n.*2693-27C>T
ENST00000681768.1:c.*2503-27C>T	ENSP00000506311.1:n.*2503-27C>T
ENST00000681808.1:c.4662-27C>T	ENSP00000505219.1:n.4662-27C>T
ENST00000264276.10:c.4839-27C>T	ENSP00000264276.6:n.4839-27C>T
ENST00000439495.5:c.2943-27C>T
NM_020919.3:c.4839-27C>T	NP_065970.2:n.4839-27C>T
XM_005246709.2:c.4836-27C>T	XP_005246766.1:n.4836-27C>T
XM_006712654.1:c.4839-27C>T	XP_006712717.1:n.4839-27C>T
XM_006712655.2:c.2775-27C>T	XP_006712718.1:n.2775-27C>T
XM_011511530.1:c.4500-27C>T	XP_011509832.1:n.4500-27C>T
XR_922974.1:n.5117-27C>T
XM_006712654.3:c.4839-27C>T	XP_006712717.1:n.4839-27C>T
XM_006712655.3:c.2775-27C>T	XP_006712718.1:n.2775-27C>T
XM_017004569.2:c.4836-27C>T	XP_016860058.1:n.4836-27C>T
XM_017004572.2:c.2457-27C>T	XP_016860061.1:n.2457-27C>T
XM_024453024.1:c.4500-27C>T	XP_024308792.1:n.4500-27C>T
XM_024453025.1:c.2772-27C>T	XP_024308793.1:n.2772-27C>T
XR_001738864.2:n.4954-27C>T
XR_001738865.2:n.4951-27C>T
XR_001738866.2:n.5117-27C>T
XR_001738867.2:n.5114-27C>T
XR_002959320.1:n.4010-27C>T
NM_020919.4:c.4839-27C>T MANE Select	NP_065970.2:n.4839-27C>T