Canonical Allele Identifier: CA350320205

Gene: ALS2

Linked Data

• dbSNP Id: rs1689550735
• gnomAD v3: 2-201704137-C-T
• gnomAD v4: 2-201704137-C-T
• MyVariant Identifiers: chr2:g.202568860C>T (hg19) ; chr2:g.201704137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704137C>T , CM000664.2:g.201704137C>T	GRCh38
NC_000002.11:g.202568860C>T , CM000664.1:g.202568860C>T	GRCh37
NC_000002.10:g.202277105C>T	NCBI36
NG_008775.1:g.82036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4920G>A MANE Select	ENSP00000264276.6:p.Met1640Ile
ENST00000439495.6:c.*1100G>A	ENSP00000403832.2:n.*1100G>A
ENST00000679409.1:c.*1625G>A	ENSP00000506531.1:n.*1625G>A
ENST00000679416.1:n.6424G>A
ENST00000679427.1:n.2591G>A
ENST00000679435.1:c.4920G>A	ENSP00000505218.1:p.Met1640Ile
ENST00000679516.1:c.4920G>A	ENSP00000505187.1:p.Met1640Ile
ENST00000679618.1:c.*2008G>A	ENSP00000506274.1:n.*2008G>A
ENST00000679630.1:n.6769G>A
ENST00000679635.1:n.3182G>A
ENST00000679686.1:n.5034G>A
ENST00000679701.1:n.7912G>A
ENST00000679916.1:c.*1268G>A	ENSP00000506172.1:n.*1268G>A
ENST00000680000.1:c.4920G>A	ENSP00000506173.1:p.Met1640Ile
ENST00000680135.1:c.*2881G>A	ENSP00000506211.1:n.*2881G>A
ENST00000680149.1:c.*202G>A	ENSP00000506497.1:n.*202G>A
ENST00000680163.1:c.4920G>A	ENSP00000505092.1:p.Met1640Ile
ENST00000680174.1:n.5611G>A
ENST00000680236.1:c.*1981G>A	ENSP00000506212.1:n.*1981G>A
ENST00000680404.1:n.435G>A
ENST00000680441.1:n.3478G>A
ENST00000680497.1:c.5022G>A	ENSP00000505954.1:p.Met1674Ile
ENST00000680508.1:c.*76G>A	ENSP00000505749.1:n.*76G>A
ENST00000680569.1:c.*2863G>A	ENSP00000505522.1:n.*2863G>A
ENST00000680634.1:n.1428G>A
ENST00000680722.1:n.2720G>A
ENST00000680726.1:c.*202G>A	ENSP00000505505.1:n.*202G>A
ENST00000680759.1:c.4752G>A	ENSP00000505848.1:p.Met1584Ile
ENST00000680814.1:c.4838+317G>A	ENSP00000505710.1:n.4838+317G>A
ENST00000680828.1:c.*2614G>A	ENSP00000505249.1:n.*2614G>A
ENST00000680861.1:c.4920G>A	ENSP00000505043.1:p.Met1640Ile
ENST00000680927.1:c.*1100G>A	ENSP00000505473.1:n.*1100G>A
ENST00000680939.1:n.6861G>A
ENST00000681250.1:c.*1637G>A	ENSP00000505684.1:n.*1637G>A
ENST00000681256.1:c.*2935G>A	ENSP00000505446.1:n.*2935G>A
ENST00000681279.1:n.5786G>A
ENST00000681307.1:n.6033G>A
ENST00000681461.1:n.5688G>A
ENST00000681495.1:c.2457G>A	ENSP00000506085.1:p.Met819Ile
ENST00000681558.1:c.2598G>A	ENSP00000505568.1:p.Met866Ile
ENST00000681619.1:c.4917G>A	ENSP00000505071.1:p.Met1639Ile
ENST00000681663.1:n.1826G>A
ENST00000681692.1:n.2880G>A
ENST00000681716.1:c.*2774G>A	ENSP00000505078.1:n.*2774G>A
ENST00000681768.1:c.*2584G>A	ENSP00000506311.1:n.*2584G>A
ENST00000681808.1:c.4743G>A	ENSP00000505219.1:p.Met1581Ile
ENST00000264276.10:c.4920G>A	ENSP00000264276.6:p.Met1640Ile
ENST00000439495.5:c.3024G>A
NM_020919.3:c.4920G>A	NP_065970.2:p.Met1640Ile
XM_005246709.2:c.4917G>A	XP_005246766.1:p.Met1639Ile
XM_006712654.1:c.4920G>A	XP_006712717.1:p.Met1640Ile
XM_006712655.2:c.2856G>A	XP_006712718.1:p.Met952Ile
XM_011511530.1:c.4581G>A	XP_011509832.1:p.Met1527Ile
XR_922974.1:n.5198G>A
XM_006712654.3:c.4920G>A	XP_006712717.1:p.Met1640Ile
XM_006712655.3:c.2856G>A	XP_006712718.1:p.Met952Ile
XM_017004569.2:c.4917G>A	XP_016860058.1:p.Met1639Ile
XM_017004572.2:c.2538G>A	XP_016860061.1:p.Met846Ile
XM_024453024.1:c.4581G>A	XP_024308792.1:p.Met1527Ile
XM_024453025.1:c.2853G>A	XP_024308793.1:p.Met951Ile
XR_001738864.2:n.5035G>A
XR_001738865.2:n.5032G>A
XR_001738866.2:n.5198G>A
XR_001738867.2:n.5195G>A
XR_002959320.1:n.4091G>A
NM_020919.4:c.4920G>A MANE Select	NP_065970.2:p.Met1640Ile