Canonical Allele Identifier: CA346602318
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 523792
ClinVar RCV Id: RCV000627250 RCV001243896
dbSNP Id: rs1553394603
gnomAD v4: 2-32064165-G-T
MyVariant Identifiers: chr2:g.32289234G>T (hg19) chr2:g.32064165G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064165G>T , CM000664.2:g.32064165G>T GRCh38
NC_000002.11:g.32289234G>T , CM000664.1:g.32289234G>T GRCh37
NC_000002.10:g.32142738G>T NCBI36
NG_008730.1:g.5555G>T , LRG_714:g.5555G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.334G>T ENSP00000515816.1:p.Glu112Ter
ENST00000315285.9:c.334G>T MANE Select ENSP00000320885.3:p.Glu112Ter
ENST00000621856.2:c.334G>T ENSP00000482496.2:p.Glu112Ter
ENST00000642281.1:c.218G>T
ENST00000642455.1:c.334G>T ENSP00000493827.1:p.Glu112Ter
ENST00000642751.1:c.204G>T
ENST00000642999.1:c.76G>T ENSP00000496589.1:p.Glu26Ter
ENST00000644408.1:c.210G>T
ENST00000644954.1:c.76G>T ENSP00000494312.1:p.Glu26Ter
ENST00000645400.1:c.175G>T ENSP00000496306.1:p.Glu59Ter
ENST00000646082.1:c.168G>T
ENST00000646571.1:c.334G>T ENSP00000495015.1:p.Glu112Ter
ENST00000315285.7:c.334G>T ENSP00000320885.3:p.Glu112Ter
ENST00000345662.5:c.334G>T ENSP00000340817.1:p.Glu112Ter
ENST00000615843.4:c.334G>T ENSP00000480893.1:p.Glu112Ter
ENST00000621856.1:c.76G>T ENSP00000482496.1:p.Glu26Ter
NM_014946.3:c.334G>T , LRG_714t1:c.334G>T NP_055761.2:p.Glu112Ter
NM_199436.1:c.334G>T NP_955468.1:p.Glu112Ter
XM_005264516.3:c.334G>T XP_005264573.1:p.Glu112Ter
XM_011533067.1:c.334G>T XP_011531369.1:p.Glu112Ter
NM_001363823.1:c.334G>T NP_001350752.1:p.Glu112Ter
NM_001363875.1:c.334G>T NP_001350804.1:p.Glu112Ter
XM_005264516.5:c.334G>T XP_005264573.1:p.Glu112Ter
XM_011533067.2:c.334G>T XP_011531369.1:p.Glu112Ter
XM_017004778.2:c.334G>T XP_016860267.1:p.Glu112Ter
NM_001363823.2:c.334G>T NP_001350752.1:p.Glu112Ter
NM_001363875.2:c.334G>T NP_001350804.1:p.Glu112Ter
NM_001377959.1:c.334G>T NP_001364888.1:p.Glu112Ter
NM_014946.4:c.334G>T MANE Select NP_055761.2:p.Glu112Ter
NM_199436.2:c.334G>T NP_955468.1:p.Glu112Ter
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