Canonical Allele Identifier: CA11467288
Gene: SYN2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.12159406C>T
GRCh37 chr3:g.12200906C>T
gnomAD v2:
3:12200906 C / T
gnomAD v3:
3:12159406 C / T
gnomAD v4:
chr3-12159406-C-T
Joint Max Group AF 0.62699433 (EAS)
Genomes Max Group AF 0.62727285 (EAS)
Exomes Max Group AF 0.38881056 (SAS)
dbSNP:
3755724
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12159406C>T , CM000665.2:g.12159406C>T GRCh38
NC_000003.11:g.12200906C>T , CM000665.1:g.12200906C>T GRCh37
NC_000003.10:g.12175906C>T NCBI36
NG_011728.2:g.160019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000621198.5:c.775-2140C>T MANE Select ENSP00000480050.1:n.775-2140C>T
ENST00000439861.5:n.226-2140C>T
ENST00000447752.2:n.223+535C>T
ENST00000620175.4:c.775-2140C>T ENSP00000484916.1:n.775-2140C>T
ENST00000621198.4:c.775-2140C>T ENSP00000480050.1:n.775-2140C>T
NM_003178.5:c.775-2140C>T NP_003169.2:n.775-2140C>T
NM_133625.4:c.775-2140C>T NP_598328.1:n.775-2140C>T
XM_006713311.2:c.775-2140C>T XP_006713374.1:n.775-2140C>T
XM_006713312.2:c.292-2140C>T XP_006713375.1:n.292-2140C>T
XM_006713313.2:c.4-2140C>T XP_006713376.1:n.4-2140C>T
XM_006713311.3:c.775-2140C>T XP_006713374.1:n.775-2140C>T
XM_006713312.4:c.292-2140C>T XP_006713375.1:n.292-2140C>T
XM_017007087.1:c.102+815C>T XP_016862576.1:n.102+815C>T
XR_001740240.1:n.961-2140C>T
NM_133625.5:c.775-2140C>T NP_598328.1:n.775-2140C>T
NM_133625.6:c.775-2140C>T MANE Select NP_598328.1:n.775-2140C>T
NM_003178.6:c.775-2140C>T NP_003169.2:n.775-2140C>T
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