Canonical Allele Identifier: CA70119328

Gene: SYN2

Linked Data

• dbSNP Id: rs372750211
• gnomAD v2: 3-12229521-C-T
• gnomAD v3: 3-12188021-C-T
• gnomAD v4: 3-12188021-C-T
• MyVariant Identifiers: chr3:g.12229521C>T (hg19) ; chr3:g.12188021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12188021C>T , CM000665.2:g.12188021C>T	GRCh38
NC_000003.11:g.12229521C>T , CM000665.1:g.12229521C>T	GRCh37
NC_000003.10:g.12204521C>T	NCBI36
NG_011728.2:g.188634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000621198.5:c.1613+409C>T MANE Select	ENSP00000480050.1:n.1613+409C>T
ENST00000439861.5:n.1232+409C>T
ENST00000621198.4:c.1613+409C>T	ENSP00000480050.1:n.1613+409C>T
NM_133625.4:c.1613+409C>T	NP_598328.1:n.1613+409C>T
XM_006713312.2:c.1130+409C>T	XP_006713375.1:n.1130+409C>T
XM_006713313.2:c.842+409C>T	XP_006713376.1:n.842+409C>T
XM_006713312.4:c.1130+409C>T	XP_006713375.1:n.1130+409C>T
XM_017007087.1:c.941+409C>T	XP_016862576.1:n.941+409C>T
NM_133625.5:c.1613+409C>T	NP_598328.1:n.1613+409C>T
NM_133625.6:c.1613+409C>T MANE Select	NP_598328.1:n.1613+409C>T