Canonical Allele Identifier: CA541434249
Gene: SYN2 HGNC NCBI

Linked Data

dbSNP Id: rs1215973229
gnomAD v2: 3-12229511-GTGTTTC-G
gnomAD v3: 3-12188011-GTGTTTC-G
gnomAD v4: 3-12188011-GTGTTTC-G
MyVariant Identifiers: chr3:g.12229512_12229517del (hg19) chr3:g.12188012_12188017del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12188013_12188018del , CM000665.2:g.12188013_12188018del GRCh38
NC_000003.11:g.12229513_12229518del , CM000665.1:g.12229513_12229518del GRCh37
NC_000003.10:g.12204513_12204518del NCBI36
NG_011728.2:g.188626_188631del

Transcript Alleles

HGVS Amino-acid change
ENST00000621198.5:c.1613+401_1613+406del MANE Select ENSP00000480050.1:n.1613+401_1613+406del
ENST00000439861.5:n.1232+401_1232+406del
ENST00000621198.4:c.1613+401_1613+406del ENSP00000480050.1:n.1613+401_1613+406del
NM_133625.4:c.1613+401_1613+406del NP_598328.1:n.1613+401_1613+406del
XM_006713312.2:c.1130+401_1130+406del XP_006713375.1:n.1130+401_1130+406del
XM_006713313.2:c.842+401_842+406del XP_006713376.1:n.842+401_842+406del
XM_006713312.4:c.1130+401_1130+406del XP_006713375.1:n.1130+401_1130+406del
XM_017007087.1:c.941+401_941+406del XP_016862576.1:n.941+401_941+406del
NM_133625.5:c.1613+401_1613+406del NP_598328.1:n.1613+401_1613+406del
NM_133625.6:c.1613+401_1613+406del MANE Select NP_598328.1:n.1613+401_1613+406del
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