Canonical Allele Identifier: CA1011275168

Gene: SYT2

Linked Data

• dbSNP Id: rs1690307518
• gnomAD v3: 1-202596652-CAA-C
• gnomAD v4: 1-202596652-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596654_202596655del , CM000663.2:g.202596654_202596655del	GRCh38
NC_000001.10:g.202565782_202565783del , CM000663.1:g.202565782_202565783del	GRCh37
NC_000001.9:g.200832405_200832406del	NCBI36
NG_041776.1:g.118770_118771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.*103_*104del MANE Select	ENSP00000356237.4:n.*103_*104del
ENST00000367267.5:c.*103_*104del	ENSP00000356236.1:n.*103_*104del
ENST00000367268.4:c.*103_*104del	ENSP00000356237.4:n.*103_*104del
NM_001136504.1:c.*103_*104del	NP_001129976.1:n.*103_*104del
NM_177402.4:c.*103_*104del	NP_796376.2:n.*103_*104del
XM_011509192.1:c.*103_*104del	XP_011507494.1:n.*103_*104del
XM_011509192.2:c.*103_*104del	XP_011507494.1:n.*103_*104del
XM_017000309.2:c.*103_*104del	XP_016855798.1:n.*103_*104del
XM_017000311.2:c.*103_*104del	XP_016855800.1:n.*103_*104del
XM_017000312.1:c.*103_*104del	XP_016855801.1:n.*103_*104del
XM_017000313.1:c.*103_*104del	XP_016855802.1:n.*103_*104del
NM_177402.5:c.*103_*104del MANE Select	NP_796376.2:n.*103_*104del