Canonical Allele Identifier: CA70119288

Gene: SYN2

Linked Data

• dbSNP Id: rs2307973
• gnomAD v2: 3-12229515-TTC-T
• gnomAD v3: 3-12188015-TTC-T
• gnomAD v4: 3-12188015-TTC-T
• MyVariant Identifiers: chr3:g.12229516_12229517del (hg19) ; chr3:g.12188016_12188017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12188017_12188018del , CM000665.2:g.12188017_12188018del	GRCh38
NC_000003.11:g.12229517_12229518del , CM000665.1:g.12229517_12229518del	GRCh37
NC_000003.10:g.12204517_12204518del	NCBI36
NG_011728.2:g.188630_188631del

Transcript Alleles

HGVS	Amino-acid change
ENST00000621198.5:c.1613+405_1613+406del MANE Select	ENSP00000480050.1:n.1613+405_1613+406del
ENST00000439861.5:n.1232+405_1232+406del
ENST00000621198.4:c.1613+405_1613+406del	ENSP00000480050.1:n.1613+405_1613+406del
NM_133625.4:c.1613+405_1613+406del	NP_598328.1:n.1613+405_1613+406del
XM_006713312.2:c.1130+405_1130+406del	XP_006713375.1:n.1130+405_1130+406del
XM_006713313.2:c.842+405_842+406del	XP_006713376.1:n.842+405_842+406del
XM_006713312.4:c.1130+405_1130+406del	XP_006713375.1:n.1130+405_1130+406del
XM_017007087.1:c.941+405_941+406del	XP_016862576.1:n.941+405_941+406del
NM_133625.5:c.1613+405_1613+406del	NP_598328.1:n.1613+405_1613+406del
NM_133625.6:c.1613+405_1613+406del MANE Select	NP_598328.1:n.1613+405_1613+406del