Canonical Allele Identifier: CA350328639

Gene: ALS2

Linked Data

• dbSNP Id: rs1198069855
• gnomAD v2: 2-202626180-C-G
• gnomAD v4: 2-201761457-C-G
• MyVariant Identifiers: chr2:g.202626180C>G (hg19) ; chr2:g.201761457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201761457C>G , CM000664.2:g.201761457C>G	GRCh38
NC_000002.11:g.202626180C>G , CM000664.1:g.202626180C>G	GRCh37
NC_000002.10:g.202334425C>G	NCBI36
NG_008775.1:g.24716G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.537G>C MANE Select	ENSP00000264276.6:p.Gln179His
ENST00000409632.7:c.537G>C	ENSP00000386384.3:p.Gln179His
ENST00000482789.6:n.879G>C
ENST00000482891.6:n.879G>C
ENST00000679416.1:n.879G>C
ENST00000679435.1:c.537G>C	ENSP00000505218.1:p.Gln179His
ENST00000679503.1:c.537G>C	ENSP00000505968.1:p.Gln179His
ENST00000679516.1:c.537G>C	ENSP00000505187.1:p.Gln179His
ENST00000679550.1:c.537G>C	ENSP00000506193.1:p.Gln179His
ENST00000679618.1:c.537G>C	ENSP00000506274.1:p.Gln179His
ENST00000679630.1:n.879G>C
ENST00000679686.1:n.651G>C
ENST00000679701.1:n.879G>C
ENST00000679728.1:c.537G>C	ENSP00000504981.1:p.Gln179His
ENST00000679916.1:c.537G>C	ENSP00000506172.1:p.Gln179His
ENST00000679939.1:c.537G>C	ENSP00000505704.1:p.Gln179His
ENST00000679949.1:c.537G>C	ENSP00000505232.1:p.Gln179His
ENST00000680000.1:c.537G>C	ENSP00000506173.1:p.Gln179His
ENST00000680135.1:c.537G>C	ENSP00000506211.1:p.Gln179His
ENST00000680149.1:c.537G>C	ENSP00000506497.1:p.Gln179His
ENST00000680163.1:c.537G>C	ENSP00000505092.1:p.Gln179His
ENST00000680174.1:n.879G>C
ENST00000680188.1:c.537G>C	ENSP00000505665.1:p.Gln179His
ENST00000680236.1:c.537G>C	ENSP00000506212.1:p.Gln179His
ENST00000680287.1:c.537G>C	ENSP00000506547.1:p.Gln179His
ENST00000680497.1:c.537G>C	ENSP00000505954.1:p.Gln179His
ENST00000680508.1:c.537G>C	ENSP00000505749.1:p.Gln179His
ENST00000680569.1:c.537G>C	ENSP00000505522.1:p.Gln179His
ENST00000680630.1:n.879G>C
ENST00000680644.1:c.537G>C	ENSP00000505738.1:p.Gln179His
ENST00000680726.1:c.537G>C	ENSP00000505505.1:p.Gln179His
ENST00000680737.1:n.879G>C
ENST00000680759.1:c.537G>C	ENSP00000505848.1:p.Gln179His
ENST00000680814.1:c.537G>C	ENSP00000505710.1:p.Gln179His
ENST00000680828.1:c.537G>C	ENSP00000505249.1:p.Gln179His
ENST00000680861.1:c.537G>C	ENSP00000505043.1:p.Gln179His
ENST00000680927.1:c.537G>C	ENSP00000505473.1:p.Gln179His
ENST00000680939.1:n.879G>C
ENST00000681144.1:c.*505G>C	ENSP00000505348.1:n.*505G>C
ENST00000681152.1:c.537G>C	ENSP00000505388.1:p.Gln179His
ENST00000681250.1:c.537G>C	ENSP00000505684.1:p.Gln179His
ENST00000681256.1:c.537G>C	ENSP00000505446.1:p.Gln179His
ENST00000681279.1:n.879G>C
ENST00000681303.1:c.537G>C	ENSP00000505576.1:p.Gln179His
ENST00000681307.1:n.879G>C
ENST00000681312.1:c.537G>C	ENSP00000506656.1:p.Gln179His
ENST00000681378.1:n.879G>C
ENST00000681461.1:n.879G>C
ENST00000681619.1:c.537G>C	ENSP00000505071.1:p.Gln179His
ENST00000681716.1:c.537G>C	ENSP00000505078.1:p.Gln179His
ENST00000681758.1:n.879G>C
ENST00000681768.1:c.537G>C	ENSP00000506311.1:p.Gln179His
ENST00000681808.1:c.537G>C	ENSP00000505219.1:p.Gln179His
ENST00000264276.10:c.537G>C	ENSP00000264276.6:p.Gln179His
ENST00000467448.5:c.537G>C	ENSP00000429223.1:p.Gln179His
ENST00000482789.5:n.677G>C
ENST00000482891.5:n.677G>C
ENST00000496244.5:n.714G>C
NM_001135745.1:c.537G>C	NP_001129217.1:p.Gln179His
NM_020919.3:c.537G>C	NP_065970.2:p.Gln179His
XM_005246709.2:c.537G>C	XP_005246766.1:p.Gln179His
XM_006712654.1:c.537G>C	XP_006712717.1:p.Gln179His
XM_011511530.1:c.198G>C	XP_011509832.1:p.Gln66His
XM_011511531.1:c.537G>C	XP_011509833.1:p.Gln179His
XR_922974.1:n.672G>C
XM_006712654.3:c.537G>C	XP_006712717.1:p.Gln179His
XM_017004569.2:c.537G>C	XP_016860058.1:p.Gln179His
XM_017004570.2:c.537G>C	XP_016860059.1:p.Gln179His
XM_024453024.1:c.198G>C	XP_024308792.1:p.Gln66His
XR_001738864.2:n.672G>C
XR_001738865.2:n.672G>C
XR_001738866.2:n.672G>C
XR_001738867.2:n.672G>C
NM_020919.4:c.537G>C MANE Select	NP_065970.2:p.Gln179His
NM_001135745.2:c.537G>C	NP_001129217.1:p.Gln179His