Canonical Allele Identifier: CA1346039328
Gene: SYN2 HGNC NCBI

Linked Data

dbSNP Id: rs1698380825
gnomAD v3: 3-12188030-A-AT
gnomAD v4: 3-12188030-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12188030_12188031insT , CM000665.2:g.12188030_12188031insT GRCh38
NC_000003.11:g.12229530_12229531insT , CM000665.1:g.12229530_12229531insT GRCh37
NC_000003.10:g.12204530_12204531insT NCBI36
NG_011728.2:g.188643_188644insT

Transcript Alleles

HGVS Amino-acid change
ENST00000621198.5:c.1613+418_1613+419insT MANE Select ENSP00000480050.1:n.1613+418_1613+419insT...
ENST00000439861.5:n.1232+418_1232+419insT
ENST00000621198.4:c.1613+418_1613+419insT ENSP00000480050.1:n.1613+418_1613+419insT...
NM_133625.4:c.1613+418_1613+419insT NP_598328.1:n.1613+418_1613+419insT
XM_006713312.2:c.1130+418_1130+419insT XP_006713375.1:n.1130+418_1130+419insT
XM_006713313.2:c.842+418_842+419insT XP_006713376.1:n.842+418_842+419insT
XM_006713312.4:c.1130+418_1130+419insT XP_006713375.1:n.1130+418_1130+419insT
XM_017007087.1:c.941+418_941+419insT XP_016862576.1:n.941+418_941+419insT
NM_133625.5:c.1613+418_1613+419insT NP_598328.1:n.1613+418_1613+419insT
NM_133625.6:c.1613+418_1613+419insT MANE Select NP_598328.1:n.1613+418_1613+419insT
Search 100 bp 5'
Search 100 bp 3'