Canonical Allele Identifier: CA70057462
Gene: SYN2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.12148468A>G
GRCh37 chr3:g.12189968A>G
gnomAD v2:
3:12189968 A / G
gnomAD v3:
3:12148468 A / G
gnomAD v4:
chr3-12148468-A-G
Joint Max Group AF 0.54648849 (EAS)
Genomes Max Group AF 0.54640283 (EAS)
Exomes Max Group AF 0.26130104 (EAS)
dbSNP:
3773364
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12148468A>G , CM000665.2:g.12148468A>G GRCh38
NC_000003.11:g.12189968A>G , CM000665.1:g.12189968A>G GRCh37
NC_000003.10:g.12164968A>G NCBI36
NG_011728.2:g.149081A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000621198.5:c.684+2633A>G MANE Select ENSP00000480050.1:n.684+2633A>G
ENST00000424884.1:n.433+2633A>G
ENST00000620175.4:c.684+2633A>G ENSP00000484916.1:n.684+2633A>G
ENST00000621198.4:c.684+2633A>G ENSP00000480050.1:n.684+2633A>G
NM_003178.5:c.684+2633A>G NP_003169.2:n.684+2633A>G
NM_133625.4:c.684+2633A>G NP_598328.1:n.684+2633A>G
XM_006713311.2:c.684+2633A>G XP_006713374.1:n.684+2633A>G
XM_006713312.2:c.201+1501A>G XP_006713375.1:n.201+1501A>G
XM_006713311.3:c.684+2633A>G XP_006713374.1:n.684+2633A>G
XM_006713312.4:c.201+1501A>G XP_006713375.1:n.201+1501A>G
XR_001740240.1:n.870+2633A>G
NM_133625.5:c.684+2633A>G NP_598328.1:n.684+2633A>G
NM_133625.6:c.684+2633A>G MANE Select NP_598328.1:n.684+2633A>G
NM_003178.6:c.684+2633A>G NP_003169.2:n.684+2633A>G
Search 100 bp 5'
Search 100 bp 3'