Canonical Allele Identifier: CA350320360

Gene: ALS2

Linked Data

• gnomAD v4: 2-201704168-G-A
• MyVariant Identifiers: chr2:g.202568891G>A (hg19) ; chr2:g.201704168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704168G>A , CM000664.2:g.201704168G>A	GRCh38
NC_000002.11:g.202568891G>A , CM000664.1:g.202568891G>A	GRCh37
NC_000002.10:g.202277136G>A	NCBI36
NG_008775.1:g.82005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4889C>T MANE Select	ENSP00000264276.6:p.Pro1630Leu
ENST00000439495.6:c.*1069C>T	ENSP00000403832.2:n.*1069C>T
ENST00000679409.1:c.*1594C>T	ENSP00000506531.1:n.*1594C>T
ENST00000679416.1:n.6393C>T
ENST00000679427.1:n.2560C>T
ENST00000679435.1:c.4889C>T	ENSP00000505218.1:p.Pro1630Leu
ENST00000679516.1:c.4889C>T	ENSP00000505187.1:p.Pro1630Leu
ENST00000679618.1:c.*1977C>T	ENSP00000506274.1:n.*1977C>T
ENST00000679630.1:n.6738C>T
ENST00000679635.1:n.3151C>T
ENST00000679686.1:n.5003C>T
ENST00000679701.1:n.7881C>T
ENST00000679916.1:c.*1237C>T	ENSP00000506172.1:n.*1237C>T
ENST00000680000.1:c.4889C>T	ENSP00000506173.1:p.Pro1630Leu
ENST00000680135.1:c.*2850C>T	ENSP00000506211.1:n.*2850C>T
ENST00000680149.1:c.*171C>T	ENSP00000506497.1:n.*171C>T
ENST00000680163.1:c.4889C>T	ENSP00000505092.1:p.Pro1630Leu
ENST00000680174.1:n.5580C>T
ENST00000680236.1:c.*1950C>T	ENSP00000506212.1:n.*1950C>T
ENST00000680404.1:n.404C>T
ENST00000680441.1:n.3447C>T
ENST00000680497.1:c.4991C>T	ENSP00000505954.1:p.Pro1664Leu
ENST00000680508.1:c.*45C>T	ENSP00000505749.1:n.*45C>T
ENST00000680569.1:c.*2832C>T	ENSP00000505522.1:n.*2832C>T
ENST00000680634.1:n.1397C>T
ENST00000680722.1:n.2689C>T
ENST00000680726.1:c.*171C>T	ENSP00000505505.1:n.*171C>T
ENST00000680759.1:c.4721C>T	ENSP00000505848.1:p.Pro1574Leu
ENST00000680814.1:c.4838+286C>T	ENSP00000505710.1:n.4838+286C>T
ENST00000680828.1:c.*2583C>T	ENSP00000505249.1:n.*2583C>T
ENST00000680861.1:c.4889C>T	ENSP00000505043.1:p.Pro1630Leu
ENST00000680927.1:c.*1069C>T	ENSP00000505473.1:n.*1069C>T
ENST00000680939.1:n.6830C>T
ENST00000681250.1:c.*1606C>T	ENSP00000505684.1:n.*1606C>T
ENST00000681256.1:c.*2904C>T	ENSP00000505446.1:n.*2904C>T
ENST00000681279.1:n.5755C>T
ENST00000681307.1:n.6002C>T
ENST00000681461.1:n.5657C>T
ENST00000681495.1:c.2426C>T	ENSP00000506085.1:p.Pro809Leu
ENST00000681558.1:c.2567C>T	ENSP00000505568.1:p.Pro856Leu
ENST00000681619.1:c.4886C>T	ENSP00000505071.1:p.Pro1629Leu
ENST00000681663.1:n.1795C>T
ENST00000681692.1:n.2849C>T
ENST00000681716.1:c.*2743C>T	ENSP00000505078.1:n.*2743C>T
ENST00000681768.1:c.*2553C>T	ENSP00000506311.1:n.*2553C>T
ENST00000681808.1:c.4712C>T	ENSP00000505219.1:p.Pro1571Leu
ENST00000264276.10:c.4889C>T	ENSP00000264276.6:p.Pro1630Leu
ENST00000439495.5:c.2993C>T
NM_020919.3:c.4889C>T	NP_065970.2:p.Pro1630Leu
XM_005246709.2:c.4886C>T	XP_005246766.1:p.Pro1629Leu
XM_006712654.1:c.4889C>T	XP_006712717.1:p.Pro1630Leu
XM_006712655.2:c.2825C>T	XP_006712718.1:p.Pro942Leu
XM_011511530.1:c.4550C>T	XP_011509832.1:p.Pro1517Leu
XR_922974.1:n.5167C>T
XM_006712654.3:c.4889C>T	XP_006712717.1:p.Pro1630Leu
XM_006712655.3:c.2825C>T	XP_006712718.1:p.Pro942Leu
XM_017004569.2:c.4886C>T	XP_016860058.1:p.Pro1629Leu
XM_017004572.2:c.2507C>T	XP_016860061.1:p.Pro836Leu
XM_024453024.1:c.4550C>T	XP_024308792.1:p.Pro1517Leu
XM_024453025.1:c.2822C>T	XP_024308793.1:p.Pro941Leu
XR_001738864.2:n.5004C>T
XR_001738865.2:n.5001C>T
XR_001738866.2:n.5167C>T
XR_001738867.2:n.5164C>T
XR_002959320.1:n.4060C>T
NM_020919.4:c.4889C>T MANE Select	NP_065970.2:p.Pro1630Leu