Canonical Allele Identifier: CA541427591

Gene: SYN2

Linked Data

• dbSNP Id: rs1378787151
• gnomAD v2: 3-12181334-C-G
• MyVariant Identifiers: chr3:g.12181334C>G (hg19) ; chr3:g.12139834C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12139834C>G , CM000665.2:g.12139834C>G	GRCh38
NC_000003.11:g.12181334C>G , CM000665.1:g.12181334C>G	GRCh37
NC_000003.10:g.12156334C>G	NCBI36
NG_011728.2:g.140447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.378-817C>G MANE Select	ENSP00000480050.1:n.378-817C>G
ENST00000424884.1:n.127-817C>G
ENST00000620175.4:c.378-817C>G	ENSP00000484916.1:n.378-817C>G
ENST00000621198.4:c.378-817C>G	ENSP00000480050.1:n.378-817C>G
NM_003178.5:c.378-817C>G	NP_003169.2:n.378-817C>G
NM_133625.4:c.378-817C>G	NP_598328.1:n.378-817C>G
XM_006713311.2:c.378-817C>G	XP_006713374.1:n.378-817C>G
XM_006713311.3:c.378-817C>G	XP_006713374.1:n.378-817C>G
XR_001740240.1:n.564-817C>G
NM_133625.5:c.378-817C>G	NP_598328.1:n.378-817C>G
NM_133625.6:c.378-817C>G MANE Select	NP_598328.1:n.378-817C>G
NM_003178.6:c.378-817C>G	NP_003169.2:n.378-817C>G