Canonical Allele Identifier: CA1346039283
Gene: SYN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12187954_12187958delinsGGTTT , CM000665.2:g.12187954_12187958delinsGGTTT GRCh38
NC_000003.11:g.12229454_12229458delinsGGTTT , CM000665.1:g.12229454_12229458delinsGGTTT GRCh37
NC_000003.10:g.12204454_12204458delinsGGTTT NCBI36
NG_011728.2:g.188567_188571delinsGGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000621198.5:c.1613+342_1613+346delinsGGTTT MANE Select ENSP00000480050.1:n.1613+342_1613+346delinsGGTTT
ENST00000439861.5:n.1232+342_1232+346delinsGGTTT
ENST00000621198.4:c.1613+342_1613+346delinsGGTTT ENSP00000480050.1:n.1613+342_1613+346delinsGGTTT
NM_133625.4:c.1613+342_1613+346delinsGGTTT NP_598328.1:n.1613+342_1613+346delinsGGTTT
XM_006713312.2:c.1130+342_1130+346delinsGGTTT XP_006713375.1:n.1130+342_1130+346delinsGGTTT
XM_006713313.2:c.842+342_842+346delinsGGTTT XP_006713376.1:n.842+342_842+346delinsGGTTT
XM_006713312.4:c.1130+342_1130+346delinsGGTTT XP_006713375.1:n.1130+342_1130+346delinsGGTTT
XM_017007087.1:c.941+342_941+346delinsGGTTT XP_016862576.1:n.941+342_941+346delinsGGTTT
NM_133625.5:c.1613+342_1613+346delinsGGTTT NP_598328.1:n.1613+342_1613+346delinsGGTTT
NM_133625.6:c.1613+342_1613+346delinsGGTTT MANE Select NP_598328.1:n.1613+342_1613+346delinsGGTTT