Canonical Allele Identifier: CA539386748

Gene: ALS2

Linked Data

• ClinVar Variation Id: 2084095
• ClinVar RCV Id: RCV002994531
• dbSNP Id: rs1304995143
• gnomAD v2: 2-202611487-GAT-G
• gnomAD v3: 2-201746764-GAT-G
• gnomAD v4: 2-201746764-GAT-G
• MyVariant Identifiers: chr2:g.202611488_202611489del (hg19) ; chr2:g.201746765_201746766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201746766_201746767del , CM000664.2:g.201746766_201746767del	GRCh38
NC_000002.11:g.202611489_202611490del , CM000664.1:g.202611489_202611490del	GRCh37
NC_000002.10:g.202319734_202319735del	NCBI36
NG_008775.1:g.39407_39408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.1816-18_1816-17del MANE Select	ENSP00000264276.6:n.1816-18_1816-17del
ENST00000482789.6:n.2158-18_2158-17del
ENST00000482891.6:n.2158-18_2158-17del
ENST00000679416.1:n.2158-18_2158-17del
ENST00000679435.1:c.1816-18_1816-17del	ENSP00000505218.1:n.1816-18_1816-17del
ENST00000679516.1:c.1816-18_1816-17del	ENSP00000505187.1:n.1816-18_1816-17del
ENST00000679549.1:n.1045-18_1045-17del
ENST00000679550.1:c.1816-18_1816-17del	ENSP00000506193.1:n.1816-18_1816-17del
ENST00000679618.1:c.1816-18_1816-17del	ENSP00000506274.1:n.1816-18_1816-17del
ENST00000679630.1:n.2158-18_2158-17del
ENST00000679686.1:n.1930-18_1930-17del
ENST00000679701.1:n.2158-18_2158-17del
ENST00000679916.1:c.1816-18_1816-17del	ENSP00000506172.1:n.1816-18_1816-17del
ENST00000679939.1:c.1816-18_1816-17del	ENSP00000505704.1:n.1816-18_1816-17del
ENST00000679949.1:c.1768-18_1768-17del	ENSP00000505232.1:n.1768-18_1768-17del
ENST00000680000.1:c.1816-18_1816-17del	ENSP00000506173.1:n.1816-18_1816-17del
ENST00000680135.1:c.1816-18_1816-17del	ENSP00000506211.1:n.1816-18_1816-17del
ENST00000680149.1:c.1816-18_1816-17del	ENSP00000506497.1:n.1816-18_1816-17del
ENST00000680163.1:c.1816-18_1816-17del	ENSP00000505092.1:n.1816-18_1816-17del
ENST00000680174.1:n.2158-18_2158-17del
ENST00000680236.1:c.1816-18_1816-17del	ENSP00000506212.1:n.1816-18_1816-17del
ENST00000680287.1:c.1816-18_1816-17del	ENSP00000506547.1:n.1816-18_1816-17del
ENST00000680497.1:c.1918-18_1918-17del	ENSP00000505954.1:n.1918-18_1918-17del
ENST00000680508.1:c.1816-18_1816-17del	ENSP00000505749.1:n.1816-18_1816-17del
ENST00000680569.1:c.1816-18_1816-17del	ENSP00000505522.1:n.1816-18_1816-17del
ENST00000680630.1:n.2158-18_2158-17del
ENST00000680644.1:c.*327-18_*327-17del	ENSP00000505738.1:n.*327-18_*327-17del
ENST00000680726.1:c.1816-18_1816-17del	ENSP00000505505.1:n.1816-18_1816-17del
ENST00000680737.1:n.2158-18_2158-17del
ENST00000680759.1:c.1816-18_1816-17del	ENSP00000505848.1:n.1816-18_1816-17del
ENST00000680814.1:c.1816-18_1816-17del	ENSP00000505710.1:n.1816-18_1816-17del
ENST00000680828.1:c.1816-18_1816-17del	ENSP00000505249.1:n.1816-18_1816-17del
ENST00000680861.1:c.1816-18_1816-17del	ENSP00000505043.1:n.1816-18_1816-17del
ENST00000680927.1:c.1816-18_1816-17del	ENSP00000505473.1:n.1816-18_1816-17del
ENST00000680939.1:n.2158-18_2158-17del
ENST00000681152.1:c.1816-18_1816-17del	ENSP00000505388.1:n.1816-18_1816-17del
ENST00000681250.1:c.1471+10636_1471+10637del	ENSP00000505684.1:n.1471+10636_1471+10637...
ENST00000681256.1:c.1816-18_1816-17del	ENSP00000505446.1:n.1816-18_1816-17del
ENST00000681279.1:n.2158-18_2158-17del
ENST00000681303.1:c.1816-18_1816-17del	ENSP00000505576.1:n.1816-18_1816-17del
ENST00000681307.1:n.2158-18_2158-17del
ENST00000681461.1:n.2158-18_2158-17del
ENST00000681619.1:c.1816-18_1816-17del	ENSP00000505071.1:n.1816-18_1816-17del
ENST00000681716.1:c.1816-18_1816-17del	ENSP00000505078.1:n.1816-18_1816-17del
ENST00000681758.1:n.2158-18_2158-17del
ENST00000681768.1:c.1816-18_1816-17del	ENSP00000506311.1:n.1816-18_1816-17del
ENST00000681808.1:c.1816-18_1816-17del	ENSP00000505219.1:n.1816-18_1816-17del
ENST00000264276.10:c.1816-18_1816-17del	ENSP00000264276.6:n.1816-18_1816-17del
ENST00000482789.5:n.1956-18_1956-17del
ENST00000482891.5:n.1956-18_1956-17del
NM_020919.3:c.1816-18_1816-17del	NP_065970.2:n.1816-18_1816-17del
XM_005246709.2:c.1816-18_1816-17del	XP_005246766.1:n.1816-18_1816-17del
XM_006712654.1:c.1816-18_1816-17del	XP_006712717.1:n.1816-18_1816-17del
XM_011511530.1:c.1477-18_1477-17del	XP_011509832.1:n.1477-18_1477-17del
XM_011511531.1:c.1816-18_1816-17del	XP_011509833.1:n.1816-18_1816-17del
XR_922974.1:n.1951-18_1951-17del
XM_006712654.3:c.1816-18_1816-17del	XP_006712717.1:n.1816-18_1816-17del
XM_006712655.3:c.-187-18_-187-17del	XP_006712718.1:n.-187-18_-187-17del
XM_017004569.2:c.1816-18_1816-17del	XP_016860058.1:n.1816-18_1816-17del
XM_017004570.2:c.1816-18_1816-17del	XP_016860059.1:n.1816-18_1816-17del
XM_017004572.2:c.-670-18_-670-17del	XP_016860061.1:n.-670-18_-670-17del
XM_024453024.1:c.1477-18_1477-17del	XP_024308792.1:n.1477-18_1477-17del
XM_024453025.1:c.-187-18_-187-17del	XP_024308793.1:n.-187-18_-187-17del
XR_001738864.2:n.1951-18_1951-17del
XR_001738865.2:n.1951-18_1951-17del
XR_001738866.2:n.1951-18_1951-17del
XR_001738867.2:n.1951-18_1951-17del
XR_002959320.1:n.1069-18_1069-17del
NM_020919.4:c.1816-18_1816-17del MANE Select	NP_065970.2:n.1816-18_1816-17del