Canonical Allele Identifier: CA898005178

Gene: SYN2

Linked Data

• dbSNP Id: rs1255307534
• gnomAD v3: 3-12139986-T-TA
• gnomAD v4: 3-12139986-T-TA
• MyVariant Identifiers: chr3:g.12181486_12181487insA (hg19) ; chr3:g.12139986_12139987insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12139987dup , CM000665.2:g.12139987dup	GRCh38
NC_000003.11:g.12181487dup , CM000665.1:g.12181487dup	GRCh37
NC_000003.10:g.12156487dup	NCBI36
NG_011728.2:g.140600dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.378-664dup MANE Select	ENSP00000480050.1:n.378-664dup
ENST00000424884.1:n.127-664dup
ENST00000620175.4:c.378-664dup	ENSP00000484916.1:n.378-664dup
ENST00000621198.4:c.378-664dup	ENSP00000480050.1:n.378-664dup
NM_003178.5:c.378-664dup	NP_003169.2:n.378-664dup
NM_133625.4:c.378-664dup	NP_598328.1:n.378-664dup
XM_006713311.2:c.378-664dup	XP_006713374.1:n.378-664dup
XM_006713311.3:c.378-664dup	XP_006713374.1:n.378-664dup
XR_001740240.1:n.564-664dup
NM_133625.5:c.378-664dup	NP_598328.1:n.378-664dup
NM_133625.6:c.378-664dup MANE Select	NP_598328.1:n.378-664dup
NM_003178.6:c.378-664dup	NP_003169.2:n.378-664dup