Canonical Allele Identifier: CA430639326

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202588062A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723339A>G , CM000664.2:g.201723339A>G	GRCh38
NC_000002.11:g.202588062A>G , CM000664.1:g.202588062A>G	GRCh37
NC_000002.10:g.202296307A>G	NCBI36
NG_008775.1:g.62834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3615T>C MANE Select	ENSP00000264276.6:p.Asn1205=
ENST00000439495.6:c.1293T>C	ENSP00000403832.2:p.Asn431=
ENST00000482891.6:n.4383T>C
ENST00000494017.6:n.1347T>C
ENST00000679409.1:c.1293T>C	ENSP00000506531.1:p.Asn431=
ENST00000679416.1:n.5119T>C
ENST00000679435.1:c.3615T>C	ENSP00000505218.1:p.Asn1205=
ENST00000679516.1:c.3615T>C	ENSP00000505187.1:p.Asn1205=
ENST00000679618.1:c.*703T>C	ENSP00000506274.1:n.*703T>C
ENST00000679630.1:n.5464T>C
ENST00000679686.1:n.3729T>C
ENST00000679701.1:n.6607T>C
ENST00000679916.1:c.3615T>C	ENSP00000506172.1:p.Asn1205=
ENST00000680000.1:c.3615T>C	ENSP00000506173.1:p.Asn1205=
ENST00000680135.1:c.*1579T>C	ENSP00000506211.1:n.*1579T>C
ENST00000680149.1:c.3615T>C	ENSP00000506497.1:p.Asn1205=
ENST00000680163.1:c.3615T>C	ENSP00000505092.1:p.Asn1205=
ENST00000680174.1:n.4306T>C
ENST00000680236.1:c.*676T>C	ENSP00000506212.1:n.*676T>C
ENST00000680497.1:c.3717T>C	ENSP00000505954.1:p.Asn1239=
ENST00000680508.1:c.3615T>C	ENSP00000505749.1:p.Asn1205=
ENST00000680569.1:c.*1326T>C	ENSP00000505522.1:n.*1326T>C
ENST00000680630.1:n.4047T>C
ENST00000680634.1:n.21-2850T>C
ENST00000680722.1:n.1415T>C
ENST00000680723.1:n.4398T>C
ENST00000680726.1:c.3615T>C	ENSP00000505505.1:p.Asn1205=
ENST00000680737.1:n.3886T>C
ENST00000680759.1:c.3615T>C	ENSP00000505848.1:p.Asn1205=
ENST00000680814.1:c.3615T>C	ENSP00000505710.1:p.Asn1205=
ENST00000680828.1:c.*1187T>C	ENSP00000505249.1:n.*1187T>C
ENST00000680861.1:c.3615T>C	ENSP00000505043.1:p.Asn1205=
ENST00000680927.1:c.3615T>C	ENSP00000505473.1:p.Asn1205=
ENST00000680939.1:n.3957T>C
ENST00000681152.1:c.3615T>C	ENSP00000505388.1:p.Asn1205=
ENST00000681250.1:c.*332T>C	ENSP00000505684.1:n.*332T>C
ENST00000681256.1:c.*1633T>C	ENSP00000505446.1:n.*1633T>C
ENST00000681279.1:n.4383T>C
ENST00000681303.1:c.3615T>C	ENSP00000505576.1:p.Asn1205=
ENST00000681307.1:n.4728T>C
ENST00000681461.1:n.4383T>C
ENST00000681495.1:c.1155T>C	ENSP00000506085.1:p.Asn385=
ENST00000681558.1:c.1293T>C	ENSP00000505568.1:p.Asn431=
ENST00000681619.1:c.3615T>C	ENSP00000505071.1:p.Asn1205=
ENST00000681716.1:c.*1326T>C	ENSP00000505078.1:n.*1326T>C
ENST00000681758.1:n.3957T>C
ENST00000681768.1:c.*1279T>C	ENSP00000506311.1:n.*1279T>C
ENST00000681808.1:c.3615T>C	ENSP00000505219.1:p.Asn1205=
ENST00000264276.10:c.3615T>C	ENSP00000264276.6:p.Asn1205=
ENST00000439495.5:c.1576T>C
ENST00000482891.5:n.3755T>C
ENST00000489440.5:n.436T>C
NM_020919.3:c.3615T>C	NP_065970.2:p.Asn1205=
XM_005246709.2:c.3615T>C	XP_005246766.1:p.Asn1205=
XM_006712654.1:c.3615T>C	XP_006712717.1:p.Asn1205=
XM_006712655.2:c.1551T>C	XP_006712718.1:p.Asn517=
XM_011511530.1:c.3276T>C	XP_011509832.1:p.Asn1092=
XM_011511531.1:c.3615T>C	XP_011509833.1:p.Asn1205=
XR_922974.1:n.3750T>C
XM_006712654.3:c.3615T>C	XP_006712717.1:p.Asn1205=
XM_006712655.3:c.1551T>C	XP_006712718.1:p.Asn517=
XM_017004569.2:c.3615T>C	XP_016860058.1:p.Asn1205=
XM_017004570.2:c.3615T>C	XP_016860059.1:p.Asn1205=
XM_017004572.2:c.1233T>C	XP_016860061.1:p.Asn411=
XM_024453024.1:c.3276T>C	XP_024308792.1:p.Asn1092=
XM_024453025.1:c.1551T>C	XP_024308793.1:p.Asn517=
XR_001738864.2:n.3750T>C
XR_001738865.2:n.3750T>C
XR_001738866.2:n.3750T>C
XR_001738867.2:n.3750T>C
XR_002959320.1:n.2806T>C
NM_020919.4:c.3615T>C MANE Select	NP_065970.2:p.Asn1205=