Canonical Allele Identifier: CA1045142110

Gene: SYN2

Linked Data

• dbSNP Id: rs1696975863
• gnomAD v3: 3-12139854-T-TAGA
• gnomAD v4: 3-12139854-T-TAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12139857_12139859dup , CM000665.2:g.12139857_12139859dup	GRCh38
NC_000003.11:g.12181357_12181359dup , CM000665.1:g.12181357_12181359dup	GRCh37
NC_000003.10:g.12156357_12156359dup	NCBI36
NG_011728.2:g.140470_140472dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.378-794_378-792dup MANE Select	ENSP00000480050.1:n.378-794_378-792dup
ENST00000424884.1:n.127-794_127-792dup
ENST00000620175.4:c.378-794_378-792dup	ENSP00000484916.1:n.378-794_378-792dup
ENST00000621198.4:c.378-794_378-792dup	ENSP00000480050.1:n.378-794_378-792dup
NM_003178.5:c.378-794_378-792dup	NP_003169.2:n.378-794_378-792dup
NM_133625.4:c.378-794_378-792dup	NP_598328.1:n.378-794_378-792dup
XM_006713311.2:c.378-794_378-792dup	XP_006713374.1:n.378-794_378-792dup
XM_006713311.3:c.378-794_378-792dup	XP_006713374.1:n.378-794_378-792dup
XR_001740240.1:n.564-794_564-792dup
NM_133625.5:c.378-794_378-792dup	NP_598328.1:n.378-794_378-792dup
NM_133625.6:c.378-794_378-792dup MANE Select	NP_598328.1:n.378-794_378-792dup
NM_003178.6:c.378-794_378-792dup	NP_003169.2:n.378-794_378-792dup