Canonical Allele Identifier: CA897864666
Gene: SYN2 HGNC NCBI

Linked Data

dbSNP Id: rs1356166798
gnomAD v3: 3-12022978-G-A
gnomAD v4: 3-12022978-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12022978G>A , CM000665.2:g.12022978G>A GRCh38
NC_000003.11:g.12064478G>A , CM000665.1:g.12064478G>A GRCh37
NC_000003.10:g.12039478G>A NCBI36
NG_011728.2:g.23591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000621198.5:c.377+18050G>A MANE Select ENSP00000480050.1:n.377+18050G>A
ENST00000620175.4:c.377+18050G>A ENSP00000484916.1:n.377+18050G>A
ENST00000621198.4:c.377+18050G>A ENSP00000480050.1:n.377+18050G>A
NM_003178.5:c.377+18050G>A NP_003169.2:n.377+18050G>A
NM_133625.4:c.377+18050G>A NP_598328.1:n.377+18050G>A
XM_006713311.2:c.377+18050G>A XP_006713374.1:n.377+18050G>A
XM_006713311.3:c.377+18050G>A XP_006713374.1:n.377+18050G>A
XR_001740240.1:n.563+18050G>A
NM_133625.5:c.377+18050G>A NP_598328.1:n.377+18050G>A
NM_133625.6:c.377+18050G>A MANE Select NP_598328.1:n.377+18050G>A
NM_003178.6:c.377+18050G>A NP_003169.2:n.377+18050G>A