Canonical Allele Identifier: CA730216159

Gene: SYT2

Linked Data

• dbSNP Id: rs1288977705
• gnomAD v4: 1-202596646-A-AC
• MyVariant Identifiers: chr1:g.202565774_202565775insC (hg19) ; chr1:g.202596646_202596647insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596649dup , CM000663.2:g.202596649dup	GRCh38
NC_000001.10:g.202565777dup , CM000663.1:g.202565777dup	GRCh37
NC_000001.9:g.200832400dup	NCBI36
NG_041776.1:g.118777dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.*110dup MANE Select	ENSP00000356237.4:n.*110dup
ENST00000367267.5:c.*110dup	ENSP00000356236.1:n.*110dup
ENST00000367268.4:c.*110dup	ENSP00000356237.4:n.*110dup
NM_001136504.1:c.*110dup	NP_001129976.1:n.*110dup
NM_177402.4:c.*110dup	NP_796376.2:n.*110dup
XM_011509192.1:c.*110dup	XP_011507494.1:n.*110dup
XM_011509192.2:c.*110dup	XP_011507494.1:n.*110dup
XM_017000309.2:c.*110dup	XP_016855798.1:n.*110dup
XM_017000311.2:c.*110dup	XP_016855800.1:n.*110dup
XM_017000312.1:c.*110dup	XP_016855801.1:n.*110dup
XM_017000313.1:c.*110dup	XP_016855802.1:n.*110dup
NM_177402.5:c.*110dup MANE Select	NP_796376.2:n.*110dup