Canonical Allele Identifier: CA69951936

Gene: SYN2

Linked Data

• dbSNP Id: rs974151931
• gnomAD v2: 3-12064452-TAGAATGC-T
• gnomAD v3: 3-12022952-TAGAATGC-T
• gnomAD v4: 3-12022952-TAGAATGC-T
• MyVariant Identifiers: chr3:g.12064453_12064459del (hg19) ; chr3:g.12022953_12022959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12022954_12022960del , CM000665.2:g.12022954_12022960del	GRCh38
NC_000003.11:g.12064454_12064460del , CM000665.1:g.12064454_12064460del	GRCh37
NC_000003.10:g.12039454_12039460del	NCBI36
NG_011728.2:g.23567_23573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.377+18026_377+18032del MANE Select	ENSP00000480050.1:n.377+18026_377+18032del
ENST00000620175.4:c.377+18026_377+18032del	ENSP00000484916.1:n.377+18026_377+18032del
ENST00000621198.4:c.377+18026_377+18032del	ENSP00000480050.1:n.377+18026_377+18032del
NM_003178.5:c.377+18026_377+18032del	NP_003169.2:n.377+18026_377+18032del
NM_133625.4:c.377+18026_377+18032del	NP_598328.1:n.377+18026_377+18032del
XM_006713311.2:c.377+18026_377+18032del	XP_006713374.1:n.377+18026_377+18032del
XM_006713311.3:c.377+18026_377+18032del	XP_006713374.1:n.377+18026_377+18032del
XR_001740240.1:n.563+18026_563+18032del
NM_133625.5:c.377+18026_377+18032del	NP_598328.1:n.377+18026_377+18032del
NM_133625.6:c.377+18026_377+18032del MANE Select	NP_598328.1:n.377+18026_377+18032del
NM_003178.6:c.377+18026_377+18032del	NP_003169.2:n.377+18026_377+18032del