Canonical Allele Identifier: CA70119332

Gene: SYN2

Linked Data

• dbSNP Id: rs958301273
• gnomAD v2: 3-12229526-T-TA
• gnomAD v3: 3-12188026-T-TA
• gnomAD v4: 3-12188026-T-TA
• MyVariant Identifiers: chr3:g.12229526_12229527insA (hg19) ; chr3:g.12188026_12188027insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12188035dup , CM000665.2:g.12188035dup	GRCh38
NC_000003.11:g.12229535dup , CM000665.1:g.12229535dup	GRCh37
NC_000003.10:g.12204535dup	NCBI36
NG_011728.2:g.188648dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000621198.5:c.1613+423dup MANE Select	ENSP00000480050.1:n.1613+423dup
ENST00000439861.5:n.1232+423dup
ENST00000621198.4:c.1613+423dup	ENSP00000480050.1:n.1613+423dup
NM_133625.4:c.1613+423dup	NP_598328.1:n.1613+423dup
XM_006713312.2:c.1130+423dup	XP_006713375.1:n.1130+423dup
XM_006713313.2:c.842+423dup	XP_006713376.1:n.842+423dup
XM_006713312.4:c.1130+423dup	XP_006713375.1:n.1130+423dup
XM_017007087.1:c.941+423dup	XP_016862576.1:n.941+423dup
NM_133625.5:c.1613+423dup	NP_598328.1:n.1613+423dup
NM_133625.6:c.1613+423dup MANE Select	NP_598328.1:n.1613+423dup