Canonical Allele Identifier: CA69951933

Gene: SYN2

Linked Data

• dbSNP Id: rs970925495
• gnomAD v2: 3-12064452-T-A
• gnomAD v3: 3-12022952-T-A
• gnomAD v4: 3-12022952-T-A
• MyVariant Identifiers: chr3:g.12064452T>A (hg19) ; chr3:g.12064452_12064459delinsAAGAATGC (hg19) ; chr3:g.12022952T>A (hg38) ; chr3:g.12022952_12022959delinsAAGAATGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12022952T>A , CM000665.2:g.12022952T>A	GRCh38
NC_000003.11:g.12064452T>A , CM000665.1:g.12064452T>A	GRCh37
NC_000003.10:g.12039452T>A	NCBI36
NG_011728.2:g.23565T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000621198.5:c.377+18024T>A MANE Select	ENSP00000480050.1:n.377+18024T>A
ENST00000620175.4:c.377+18024T>A	ENSP00000484916.1:n.377+18024T>A
ENST00000621198.4:c.377+18024T>A	ENSP00000480050.1:n.377+18024T>A
NM_003178.5:c.377+18024T>A	NP_003169.2:n.377+18024T>A
NM_133625.4:c.377+18024T>A	NP_598328.1:n.377+18024T>A
XM_006713311.2:c.377+18024T>A	XP_006713374.1:n.377+18024T>A
XM_006713311.3:c.377+18024T>A	XP_006713374.1:n.377+18024T>A
XR_001740240.1:n.563+18024T>A
NM_133625.5:c.377+18024T>A	NP_598328.1:n.377+18024T>A
NM_133625.6:c.377+18024T>A MANE Select	NP_598328.1:n.377+18024T>A
NM_003178.6:c.377+18024T>A	NP_003169.2:n.377+18024T>A