Canonical Allele Identifier: CA70119191

Gene: SYN2

Linked Data

• dbSNP Id: rs547228163
• gnomAD v3: 3-12187837-G-A
• gnomAD v4: 3-12187837-G-A
• MyVariant Identifiers: chr3:g.12229337G>A (hg19) ; chr3:g.12187837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12187837G>A , CM000665.2:g.12187837G>A	GRCh38
NC_000003.11:g.12229337G>A , CM000665.1:g.12229337G>A	GRCh37
NC_000003.10:g.12204337G>A	NCBI36
NG_011728.2:g.188450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.1613+225G>A MANE Select	ENSP00000480050.1:n.1613+225G>A
ENST00000439861.5:n.1232+225G>A
ENST00000621198.4:c.1613+225G>A	ENSP00000480050.1:n.1613+225G>A
NM_133625.4:c.1613+225G>A	NP_598328.1:n.1613+225G>A
XM_006713312.2:c.1130+225G>A	XP_006713375.1:n.1130+225G>A
XM_006713313.2:c.842+225G>A	XP_006713376.1:n.842+225G>A
XM_006713312.4:c.1130+225G>A	XP_006713375.1:n.1130+225G>A
XM_017007087.1:c.941+225G>A	XP_016862576.1:n.941+225G>A
NM_133625.5:c.1613+225G>A	NP_598328.1:n.1613+225G>A
NM_133625.6:c.1613+225G>A MANE Select	NP_598328.1:n.1613+225G>A