Canonical Allele Identifier: CA1045142112

Gene: SYN2

Linked Data

• dbSNP Id: rs1696976114
• gnomAD v3: 3-12139887-CATAAAAATATCTGCTT-C
• gnomAD v4: 3-12139887-CATAAAAATATCTGCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12139892_12139907del , CM000665.2:g.12139892_12139907del	GRCh38
NC_000003.11:g.12181392_12181407del , CM000665.1:g.12181392_12181407del	GRCh37
NC_000003.10:g.12156392_12156407del	NCBI36
NG_011728.2:g.140505_140520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.378-759_378-744del MANE Select	ENSP00000480050.1:n.378-759_378-744del
ENST00000424884.1:n.127-759_127-744del
ENST00000620175.4:c.378-759_378-744del	ENSP00000484916.1:n.378-759_378-744del
ENST00000621198.4:c.378-759_378-744del	ENSP00000480050.1:n.378-759_378-744del
NM_003178.5:c.378-759_378-744del	NP_003169.2:n.378-759_378-744del
NM_133625.4:c.378-759_378-744del	NP_598328.1:n.378-759_378-744del
XM_006713311.2:c.378-759_378-744del	XP_006713374.1:n.378-759_378-744del
XM_006713311.3:c.378-759_378-744del	XP_006713374.1:n.378-759_378-744del
XR_001740240.1:n.564-759_564-744del
NM_133625.5:c.378-759_378-744del	NP_598328.1:n.378-759_378-744del
NM_133625.6:c.378-759_378-744del MANE Select	NP_598328.1:n.378-759_378-744del
NM_003178.6:c.378-759_378-744del	NP_003169.2:n.378-759_378-744del