Canonical Allele Identifier: CA2057892

Gene: ALS2

Linked Data

• dbSNP Id: rs779339166
• ExAC: 2:202589141 T / G
• gnomAD v4: 2-201724418-T-G
• MyVariant Identifiers: chr2:g.202589141T>G (hg19) ; chr2:g.201724418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201724418T>G , CM000664.2:g.201724418T>G	GRCh38
NC_000002.11:g.202589141T>G , CM000664.1:g.202589141T>G	GRCh37
NC_000002.10:g.202297386T>G	NCBI36
NG_008775.1:g.61755A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3389A>C MANE Select	ENSP00000264276.6:p.Asn1130Thr
ENST00000439495.6:c.1067A>C	ENSP00000403832.2:p.Asn356Thr
ENST00000482891.6:n.4157A>C
ENST00000494017.6:n.1121A>C
ENST00000679409.1:c.1067A>C	ENSP00000506531.1:p.Asn356Thr
ENST00000679416.1:n.4893A>C
ENST00000679435.1:c.3389A>C	ENSP00000505218.1:p.Asn1130Thr
ENST00000679516.1:c.3389A>C	ENSP00000505187.1:p.Asn1130Thr
ENST00000679618.1:c.*477A>C	ENSP00000506274.1:n.*477A>C
ENST00000679630.1:n.5238A>C
ENST00000679686.1:n.3503A>C
ENST00000679701.1:n.6381A>C
ENST00000679916.1:c.3389A>C	ENSP00000506172.1:p.Asn1130Thr
ENST00000680000.1:c.3389A>C	ENSP00000506173.1:p.Asn1130Thr
ENST00000680135.1:c.*1353A>C	ENSP00000506211.1:n.*1353A>C
ENST00000680149.1:c.3389A>C	ENSP00000506497.1:p.Asn1130Thr
ENST00000680163.1:c.3389A>C	ENSP00000505092.1:p.Asn1130Thr
ENST00000680174.1:n.4080A>C
ENST00000680236.1:c.*450A>C	ENSP00000506212.1:n.*450A>C
ENST00000680497.1:c.3491A>C	ENSP00000505954.1:p.Asn1164Thr
ENST00000680508.1:c.3389A>C	ENSP00000505749.1:p.Asn1130Thr
ENST00000680569.1:c.*1100A>C	ENSP00000505522.1:n.*1100A>C
ENST00000680630.1:n.3821A>C
ENST00000680634.1:n.21-3929A>C
ENST00000680722.1:n.1189A>C
ENST00000680723.1:n.4172A>C
ENST00000680726.1:c.3389A>C	ENSP00000505505.1:p.Asn1130Thr
ENST00000680737.1:n.3660A>C
ENST00000680759.1:c.3389A>C	ENSP00000505848.1:p.Asn1130Thr
ENST00000680814.1:c.3389A>C	ENSP00000505710.1:p.Asn1130Thr
ENST00000680828.1:c.*961A>C	ENSP00000505249.1:n.*961A>C
ENST00000680861.1:c.3389A>C	ENSP00000505043.1:p.Asn1130Thr
ENST00000680927.1:c.3389A>C	ENSP00000505473.1:p.Asn1130Thr
ENST00000680939.1:n.3731A>C
ENST00000681152.1:c.3389A>C	ENSP00000505388.1:p.Asn1130Thr
ENST00000681250.1:c.*106A>C	ENSP00000505684.1:n.*106A>C
ENST00000681256.1:c.*1407A>C	ENSP00000505446.1:n.*1407A>C
ENST00000681279.1:n.4157A>C
ENST00000681303.1:c.3389A>C	ENSP00000505576.1:p.Asn1130Thr
ENST00000681307.1:n.4502A>C
ENST00000681461.1:n.4157A>C
ENST00000681495.1:c.929A>C	ENSP00000506085.1:p.Asn310Thr
ENST00000681558.1:c.1067A>C	ENSP00000505568.1:p.Asn356Thr
ENST00000681619.1:c.3389A>C	ENSP00000505071.1:p.Asn1130Thr
ENST00000681716.1:c.*1100A>C	ENSP00000505078.1:n.*1100A>C
ENST00000681758.1:n.3731A>C
ENST00000681768.1:c.*1053A>C	ENSP00000506311.1:n.*1053A>C
ENST00000681808.1:c.3389A>C	ENSP00000505219.1:p.Asn1130Thr
ENST00000264276.10:c.3389A>C	ENSP00000264276.6:p.Asn1130Thr
ENST00000439495.5:c.1350A>C
ENST00000482891.5:n.3529A>C
ENST00000489440.5:n.210A>C
NM_020919.3:c.3389A>C	NP_065970.2:p.Asn1130Thr
XM_005246709.2:c.3389A>C	XP_005246766.1:p.Asn1130Thr
XM_006712654.1:c.3389A>C	XP_006712717.1:p.Asn1130Thr
XM_006712655.2:c.1325A>C	XP_006712718.1:p.Asn442Thr
XM_011511530.1:c.3050A>C	XP_011509832.1:p.Asn1017Thr
XM_011511531.1:c.3389A>C	XP_011509833.1:p.Asn1130Thr
XR_922974.1:n.3524A>C
XM_006712654.3:c.3389A>C	XP_006712717.1:p.Asn1130Thr
XM_006712655.3:c.1325A>C	XP_006712718.1:p.Asn442Thr
XM_017004569.2:c.3389A>C	XP_016860058.1:p.Asn1130Thr
XM_017004570.2:c.3389A>C	XP_016860059.1:p.Asn1130Thr
XM_017004572.2:c.1007A>C	XP_016860061.1:p.Asn336Thr
XM_024453024.1:c.3050A>C	XP_024308792.1:p.Asn1017Thr
XM_024453025.1:c.1325A>C	XP_024308793.1:p.Asn442Thr
XR_001738864.2:n.3524A>C
XR_001738865.2:n.3524A>C
XR_001738866.2:n.3524A>C
XR_001738867.2:n.3524A>C
XR_002959320.1:n.2580A>C
NM_020919.4:c.3389A>C MANE Select	NP_065970.2:p.Asn1130Thr