Canonical Allele Identifier: CA70119235

Gene: SYN2

Linked Data

• dbSNP Id: rs80354511
• gnomAD v2: 3-12229421-C-G
• gnomAD v3: 3-12187921-C-G
• gnomAD v4: 3-12187921-C-G
• MyVariant Identifiers: chr3:g.12229421C>G (hg19) ; chr3:g.12187921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12187921C>G , CM000665.2:g.12187921C>G	GRCh38
NC_000003.11:g.12229421C>G , CM000665.1:g.12229421C>G	GRCh37
NC_000003.10:g.12204421C>G	NCBI36
NG_011728.2:g.188534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.1613+309C>G MANE Select	ENSP00000480050.1:n.1613+309C>G
ENST00000439861.5:n.1232+309C>G
ENST00000621198.4:c.1613+309C>G	ENSP00000480050.1:n.1613+309C>G
NM_133625.4:c.1613+309C>G	NP_598328.1:n.1613+309C>G
XM_006713312.2:c.1130+309C>G	XP_006713375.1:n.1130+309C>G
XM_006713313.2:c.842+309C>G	XP_006713376.1:n.842+309C>G
XM_006713312.4:c.1130+309C>G	XP_006713375.1:n.1130+309C>G
XM_017007087.1:c.941+309C>G	XP_016862576.1:n.941+309C>G
NM_133625.5:c.1613+309C>G	NP_598328.1:n.1613+309C>G
NM_133625.6:c.1613+309C>G MANE Select	NP_598328.1:n.1613+309C>G