Canonical Allele Identifier: CA16043364
Gene: SYT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373966
ClinVar RCV Id: RCV000415021
dbSNP Id: rs1057518805

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202596931_202596936del , CM000663.2:g.202596931_202596936del GRCh38
NC_000001.10:g.202566059_202566064del , CM000663.1:g.202566059_202566064del GRCh37
NC_000001.9:g.200832682_200832687del NCBI36
NG_041776.1:g.118491_118496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367268.5:c.1084_1089del MANE Select ENSP00000356237.4:p.Tyr362_Asp363del
ENST00000367267.5:c.1084_1089del ENSP00000356236.1:p.Tyr362_Asp363del
ENST00000367268.4:c.1084_1089del ENSP00000356237.4:p.Tyr362_Asp363del
NM_001136504.1:c.1084_1089del NP_001129976.1:p.Tyr362_Asp363del
NM_177402.4:c.1084_1089del NP_796376.2:p.Tyr362_Asp363del
XM_011509192.1:c.1093_1098del XP_011507494.1:p.Tyr365_Asp366del
XM_011509192.2:c.1093_1098del XP_011507494.1:p.Tyr365_Asp366del
XM_017000309.2:c.1264_1269del XP_016855798.1:p.Tyr422_Asp423del
XM_017000310.2:c.1255_1260del XP_016855799.1:p.Tyr419_Asp420del
XM_017000311.2:c.1093_1098del XP_016855800.1:p.Tyr365_Asp366del
XM_017000312.1:c.1093_1098del XP_016855801.1:p.Tyr365_Asp366del
XM_017000313.1:c.1084_1089del XP_016855802.1:p.Tyr362_Asp363del
NM_177402.5:c.1084_1089del MANE Select NP_796376.2:p.Tyr362_Asp363del