Canonical Allele Identifier: CA2257361
Gene: SYN2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.12145759T>C
GRCh37 chr3:g.12187259T>C
Revel Score:
ENST00000540660 0.514
gnomAD v2:
3:12187259 T / C
gnomAD v3:
3:12145759 T / C
gnomAD v4:
chr3-12145759-T-C
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV004098594
ClinVar Variation:
2237597
dbSNP:
768619856
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12145759T>C , CM000665.2:g.12145759T>C GRCh38
NC_000003.11:g.12187259T>C , CM000665.1:g.12187259T>C GRCh37
NC_000003.10:g.12162259T>C NCBI36
NG_011728.2:g.146372T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000621198.5:c.608T>C MANE Select ENSP00000480050.1:p.Ile203Thr
ENST00000424884.1:n.357T>C
ENST00000620175.4:c.608T>C ENSP00000484916.1:p.Ile203Thr
ENST00000621198.4:c.608T>C ENSP00000480050.1:p.Ile203Thr
NM_003178.5:c.608T>C NP_003169.2:p.Ile203Thr
NM_133625.4:c.608T>C NP_598328.1:p.Ile203Thr
XM_006713311.2:c.608T>C XP_006713374.1:p.Ile203Thr
XM_006713311.3:c.608T>C XP_006713374.1:p.Ile203Thr
XR_001740240.1:n.794T>C
NM_133625.5:c.608T>C NP_598328.1:p.Ile203Thr
NM_133625.6:c.608T>C MANE Select NP_598328.1:p.Ile203Thr
NM_003178.6:c.608T>C NP_003169.2:p.Ile203Thr
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