Canonical Allele Identifier: CA16043364

Gene: SYT2

Linked Data

• ClinVar Variation Id: 373966
• ClinVar RCV Id: RCV000415021
• dbSNP Id: rs1057518805
• MyVariant Identifiers: chr1:g.202566056_202566061del (hg19) ; chr1:g.202596928_202596933del (hg38)

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