Canonical Allele Identifier: CA897864634

Gene: SYN2

Linked Data

• dbSNP Id: rs1450359253
• gnomAD v3: 3-12022910-T-G
• gnomAD v4: 3-12022910-T-G
• MyVariant Identifiers: chr3:g.12064410T>G (hg19) ; chr3:g.12022910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12022910T>G , CM000665.2:g.12022910T>G	GRCh38
NC_000003.11:g.12064410T>G , CM000665.1:g.12064410T>G	GRCh37
NC_000003.10:g.12039410T>G	NCBI36
NG_011728.2:g.23523T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.377+17982T>G MANE Select	ENSP00000480050.1:n.377+17982T>G
ENST00000620175.4:c.377+17982T>G	ENSP00000484916.1:n.377+17982T>G
ENST00000621198.4:c.377+17982T>G	ENSP00000480050.1:n.377+17982T>G
NM_003178.5:c.377+17982T>G	NP_003169.2:n.377+17982T>G
NM_133625.4:c.377+17982T>G	NP_598328.1:n.377+17982T>G
XM_006713311.2:c.377+17982T>G	XP_006713374.1:n.377+17982T>G
XM_006713311.3:c.377+17982T>G	XP_006713374.1:n.377+17982T>G
XR_001740240.1:n.563+17982T>G
NM_133625.5:c.377+17982T>G	NP_598328.1:n.377+17982T>G
NM_133625.6:c.377+17982T>G MANE Select	NP_598328.1:n.377+17982T>G
NM_003178.6:c.377+17982T>G	NP_003169.2:n.377+17982T>G