Canonical Allele Identifier: CA1045131989

Gene: SYN2

Linked Data

• dbSNP Id: rs1698381615
• gnomAD v3: 3-12188056-GACTC-G
• gnomAD v4: 3-12188056-GACTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12188059_12188062del , CM000665.2:g.12188059_12188062del	GRCh38
NC_000003.11:g.12229559_12229562del , CM000665.1:g.12229559_12229562del	GRCh37
NC_000003.10:g.12204559_12204562del	NCBI36
NG_011728.2:g.188672_188675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.1613+447_1613+450del MANE Select	ENSP00000480050.1:n.1613+447_1613+450del
ENST00000439861.5:n.1232+447_1232+450del
ENST00000621198.4:c.1613+447_1613+450del	ENSP00000480050.1:n.1613+447_1613+450del
NM_133625.4:c.1613+447_1613+450del	NP_598328.1:n.1613+447_1613+450del
XM_006713312.2:c.1130+447_1130+450del	XP_006713375.1:n.1130+447_1130+450del
XM_006713313.2:c.842+447_842+450del	XP_006713376.1:n.842+447_842+450del
XM_006713312.4:c.1130+447_1130+450del	XP_006713375.1:n.1130+447_1130+450del
XM_017007087.1:c.941+447_941+450del	XP_016862576.1:n.941+447_941+450del
NM_133625.5:c.1613+447_1613+450del	NP_598328.1:n.1613+447_1613+450del
NM_133625.6:c.1613+447_1613+450del MANE Select	NP_598328.1:n.1613+447_1613+450del