Canonical Allele Identifier: CA2499214409

Gene: SYT2

Linked Data

• ClinVar Variation Id: 1192315
• ClinVar RCV Id: RCV001553807
• dbSNP Id: rs2149063864

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596827del , CM000663.2:g.202596827del	GRCh38
NC_000001.10:g.202565955del , CM000663.1:g.202565955del	GRCh37
NC_000001.9:g.200832578del	NCBI36
NG_041776.1:g.118598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1191del MANE Select	ENSP00000356237.4:p.Arg397SerfsTer?
ENST00000367267.5:c.1191del	ENSP00000356236.1:p.Arg397SerfsTer?
ENST00000367268.4:c.1191del	ENSP00000356237.4:p.Arg397SerfsTer?
NM_001136504.1:c.1191del	NP_001129976.1:p.Arg397SerfsTer?
NM_177402.4:c.1191del	NP_796376.2:p.Arg397SerfsTer?
XM_011509192.1:c.1200del	XP_011507494.1:p.Arg400SerfsTer?
XM_011509192.2:c.1200del	XP_011507494.1:p.Arg400SerfsTer?
XM_017000309.2:c.1371del	XP_016855798.1:p.Arg457SerfsTer?
XM_017000310.2:c.1362del	XP_016855799.1:p.Arg454SerfsTer?
XM_017000311.2:c.1200del	XP_016855800.1:p.Arg400SerfsTer?
XM_017000312.1:c.1200del	XP_016855801.1:p.Arg400SerfsTer?
XM_017000313.1:c.1191del	XP_016855802.1:p.Arg397SerfsTer?
NM_177402.5:c.1191del MANE Select	NP_796376.2:p.Arg397SerfsTer?