Canonical Allele Identifier: CA2573981701

Gene: SYT2

Linked Data

• ClinVar Variation Id: 2064106
• ClinVar RCV Id: RCV002943214

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596985del , CM000663.2:g.202596985del	GRCh38
NC_000001.10:g.202566113del , CM000663.1:g.202566113del	GRCh37
NC_000001.9:g.200832736del	NCBI36
NG_041776.1:g.118441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1054-20del MANE Select	ENSP00000356237.4:n.1054-20del
ENST00000367267.5:c.1054-20del	ENSP00000356236.1:n.1054-20del
ENST00000367268.4:c.1054-20del	ENSP00000356237.4:n.1054-20del
NM_001136504.1:c.1054-20del	NP_001129976.1:n.1054-20del
NM_177402.4:c.1054-20del	NP_796376.2:n.1054-20del
XM_011509192.1:c.1063-20del	XP_011507494.1:n.1063-20del
XR_922430.1:n.9del
XM_011509192.2:c.1063-20del	XP_011507494.1:n.1063-20del
XM_017000309.2:c.1234-20del	XP_016855798.1:n.1234-20del
XM_017000310.2:c.1225-20del	XP_016855799.1:n.1225-20del
XM_017000311.2:c.1063-20del	XP_016855800.1:n.1063-20del
XM_017000312.1:c.1063-20del	XP_016855801.1:n.1063-20del
XM_017000313.1:c.1054-20del	XP_016855802.1:n.1054-20del
NM_177402.5:c.1054-20del MANE Select	NP_796376.2:n.1054-20del