Canonical Allele Identifier: CA350320182

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568856T>G (hg19) ; chr2:g.201704133T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704133T>G , CM000664.2:g.201704133T>G	GRCh38
NC_000002.11:g.202568856T>G , CM000664.1:g.202568856T>G	GRCh37
NC_000002.10:g.202277101T>G	NCBI36
NG_008775.1:g.82040A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4924A>C MANE Select	ENSP00000264276.6:p.Thr1642Pro
ENST00000439495.6:c.*1104A>C	ENSP00000403832.2:n.*1104A>C
ENST00000679409.1:c.*1629A>C	ENSP00000506531.1:n.*1629A>C
ENST00000679416.1:n.6428A>C
ENST00000679427.1:n.2595A>C
ENST00000679435.1:c.4924A>C	ENSP00000505218.1:p.Thr1642Pro
ENST00000679516.1:c.4924A>C	ENSP00000505187.1:p.Thr1642Pro
ENST00000679618.1:c.*2012A>C	ENSP00000506274.1:n.*2012A>C
ENST00000679630.1:n.6773A>C
ENST00000679635.1:n.3186A>C
ENST00000679686.1:n.5038A>C
ENST00000679701.1:n.7916A>C
ENST00000679916.1:c.*1272A>C	ENSP00000506172.1:n.*1272A>C
ENST00000680000.1:c.4924A>C	ENSP00000506173.1:p.Thr1642Pro
ENST00000680135.1:c.*2885A>C	ENSP00000506211.1:n.*2885A>C
ENST00000680149.1:c.*206A>C	ENSP00000506497.1:n.*206A>C
ENST00000680163.1:c.4924A>C	ENSP00000505092.1:p.Thr1642Pro
ENST00000680174.1:n.5615A>C
ENST00000680236.1:c.*1985A>C	ENSP00000506212.1:n.*1985A>C
ENST00000680404.1:n.439A>C
ENST00000680441.1:n.3482A>C
ENST00000680497.1:c.5026A>C	ENSP00000505954.1:p.Thr1676Pro
ENST00000680508.1:c.*80A>C	ENSP00000505749.1:n.*80A>C
ENST00000680569.1:c.*2867A>C	ENSP00000505522.1:n.*2867A>C
ENST00000680634.1:n.1432A>C
ENST00000680722.1:n.2724A>C
ENST00000680726.1:c.*206A>C	ENSP00000505505.1:n.*206A>C
ENST00000680759.1:c.4756A>C	ENSP00000505848.1:p.Thr1586Pro
ENST00000680814.1:c.4838+321A>C	ENSP00000505710.1:n.4838+321A>C
ENST00000680828.1:c.*2618A>C	ENSP00000505249.1:n.*2618A>C
ENST00000680861.1:c.4924A>C	ENSP00000505043.1:p.Thr1642Pro
ENST00000680927.1:c.*1104A>C	ENSP00000505473.1:n.*1104A>C
ENST00000680939.1:n.6865A>C
ENST00000681250.1:c.*1641A>C	ENSP00000505684.1:n.*1641A>C
ENST00000681256.1:c.*2939A>C	ENSP00000505446.1:n.*2939A>C
ENST00000681279.1:n.5790A>C
ENST00000681307.1:n.6037A>C
ENST00000681461.1:n.5692A>C
ENST00000681495.1:c.2461A>C	ENSP00000506085.1:p.Thr821Pro
ENST00000681558.1:c.2602A>C	ENSP00000505568.1:p.Thr868Pro
ENST00000681619.1:c.4921A>C	ENSP00000505071.1:p.Thr1641Pro
ENST00000681663.1:n.1830A>C
ENST00000681692.1:n.2884A>C
ENST00000681716.1:c.*2778A>C	ENSP00000505078.1:n.*2778A>C
ENST00000681768.1:c.*2588A>C	ENSP00000506311.1:n.*2588A>C
ENST00000681808.1:c.4747A>C	ENSP00000505219.1:p.Thr1583Pro
ENST00000264276.10:c.4924A>C	ENSP00000264276.6:p.Thr1642Pro
ENST00000439495.5:c.3028A>C
NM_020919.3:c.4924A>C	NP_065970.2:p.Thr1642Pro
XM_005246709.2:c.4921A>C	XP_005246766.1:p.Thr1641Pro
XM_006712654.1:c.4924A>C	XP_006712717.1:p.Thr1642Pro
XM_006712655.2:c.2860A>C	XP_006712718.1:p.Thr954Pro
XM_011511530.1:c.4585A>C	XP_011509832.1:p.Thr1529Pro
XR_922974.1:n.5202A>C
XM_006712654.3:c.4924A>C	XP_006712717.1:p.Thr1642Pro
XM_006712655.3:c.2860A>C	XP_006712718.1:p.Thr954Pro
XM_017004569.2:c.4921A>C	XP_016860058.1:p.Thr1641Pro
XM_017004572.2:c.2542A>C	XP_016860061.1:p.Thr848Pro
XM_024453024.1:c.4585A>C	XP_024308792.1:p.Thr1529Pro
XM_024453025.1:c.2857A>C	XP_024308793.1:p.Thr953Pro
XR_001738864.2:n.5039A>C
XR_001738865.2:n.5036A>C
XR_001738866.2:n.5202A>C
XR_001738867.2:n.5199A>C
XR_002959320.1:n.4095A>C
NM_020919.4:c.4924A>C MANE Select	NP_065970.2:p.Thr1642Pro