Canonical Allele Identifier: CA2499214410

Gene: SYT2

Linked Data

• ClinVar Variation Id: 1192312
• ClinVar RCV Id: RCV001553804
• dbSNP Id: rs2149063996

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596926_202596940del , CM000663.2:g.202596926_202596940del	GRCh38
NC_000001.10:g.202566054_202566068del , CM000663.1:g.202566054_202566068del	GRCh37
NC_000001.9:g.200832677_200832691del	NCBI36
NG_041776.1:g.118489_118503del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367268.5:c.1082_1096del MANE Select	ENSP00000356237.4:p.Asp361_Leu365del
ENST00000367267.5:c.1082_1096del	ENSP00000356236.1:p.Asp361_Leu365del
ENST00000367268.4:c.1082_1096del	ENSP00000356237.4:p.Asp361_Leu365del
NM_001136504.1:c.1082_1096del	NP_001129976.1:p.Asp361_Leu365del
NM_177402.4:c.1082_1096del	NP_796376.2:p.Asp361_Leu365del
XM_011509192.1:c.1091_1105del	XP_011507494.1:p.Asp364_Leu368del
XM_011509192.2:c.1091_1105del	XP_011507494.1:p.Asp364_Leu368del
XM_017000309.2:c.1262_1276del	XP_016855798.1:p.Asp421_Leu425del
XM_017000310.2:c.1253_1267del	XP_016855799.1:p.Asp418_Leu422del
XM_017000311.2:c.1091_1105del	XP_016855800.1:p.Asp364_Leu368del
XM_017000312.1:c.1091_1105del	XP_016855801.1:p.Asp364_Leu368del
XM_017000313.1:c.1082_1096del	XP_016855802.1:p.Asp361_Leu365del
NM_177402.5:c.1082_1096del MANE Select	NP_796376.2:p.Asp361_Leu365del