Canonical Allele Identifier: CA70119268
Gene: SYN2 HGNC NCBI

Linked Data

dbSNP Id: rs201351057
MyVariant Identifiers: chr3:g.12229515_12229517del (hg19) chr3:g.12188015_12188017del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12188017_12188019del , CM000665.2:g.12188017_12188019del GRCh38
NC_000003.11:g.12229517_12229519del , CM000665.1:g.12229517_12229519del GRCh37
NC_000003.10:g.12204517_12204519del NCBI36
NG_011728.2:g.188630_188632del

Transcript Alleles

HGVS Amino-acid change
ENST00000621198.5:c.1613+405_1613+407del MANE Select ENSP00000480050.1:n.1613+405_1613+407del
ENST00000439861.5:n.1232+405_1232+407del
ENST00000621198.4:c.1613+405_1613+407del ENSP00000480050.1:n.1613+405_1613+407del
NM_133625.4:c.1613+405_1613+407del NP_598328.1:n.1613+405_1613+407del
XM_006713312.2:c.1130+405_1130+407del XP_006713375.1:n.1130+405_1130+407del
XM_006713313.2:c.842+405_842+407del XP_006713376.1:n.842+405_842+407del
XM_006713312.4:c.1130+405_1130+407del XP_006713375.1:n.1130+405_1130+407del
XM_017007087.1:c.941+405_941+407del XP_016862576.1:n.941+405_941+407del
NM_133625.5:c.1613+405_1613+407del NP_598328.1:n.1613+405_1613+407del
NM_133625.6:c.1613+405_1613+407del MANE Select NP_598328.1:n.1613+405_1613+407del
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