Canonical Allele Identifier: CA1045142223
Gene: SYN2 HGNC NCBI

Linked Data

dbSNP Id: rs1696979692
gnomAD v3: 3-12140092-C-T
gnomAD v4: 3-12140092-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12140092C>T , CM000665.2:g.12140092C>T GRCh38
NC_000003.11:g.12181592C>T , CM000665.1:g.12181592C>T GRCh37
NC_000003.10:g.12156592C>T NCBI36
NG_011728.2:g.140705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000621198.5:c.378-559C>T MANE Select ENSP00000480050.1:n.378-559C>T
ENST00000424884.1:n.127-559C>T
ENST00000620175.4:c.378-559C>T ENSP00000484916.1:n.378-559C>T
ENST00000621198.4:c.378-559C>T ENSP00000480050.1:n.378-559C>T
NM_003178.5:c.378-559C>T NP_003169.2:n.378-559C>T
NM_133625.4:c.378-559C>T NP_598328.1:n.378-559C>T
XM_006713311.2:c.378-559C>T XP_006713374.1:n.378-559C>T
XM_006713311.3:c.378-559C>T XP_006713374.1:n.378-559C>T
XR_001740240.1:n.564-559C>T
NM_133625.5:c.378-559C>T NP_598328.1:n.378-559C>T
NM_133625.6:c.378-559C>T MANE Select NP_598328.1:n.378-559C>T
NM_003178.6:c.378-559C>T NP_003169.2:n.378-559C>T