Canonical Allele Identifier: CA344256034

Gene: SYT2

Linked Data

• ClinVar Variation Id: 1192311
• ClinVar RCV Id: RCV001553803
• dbSNP Id: rs1690318147
• MyVariant Identifiers: chr1:g.202566033A>T (hg19) ; chr1:g.202596905A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596905A>T , CM000663.2:g.202596905A>T	GRCh38
NC_000001.10:g.202566033A>T , CM000663.1:g.202566033A>T	GRCh37
NC_000001.9:g.200832656A>T	NCBI36
NG_041776.1:g.118519T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1112T>A MANE Select	ENSP00000356237.4:p.Ile371Lys
ENST00000367267.5:c.1112T>A	ENSP00000356236.1:p.Ile371Lys
ENST00000367268.4:c.1112T>A	ENSP00000356237.4:p.Ile371Lys
NM_001136504.1:c.1112T>A	NP_001129976.1:p.Ile371Lys
NM_177402.4:c.1112T>A	NP_796376.2:p.Ile371Lys
XM_011509192.1:c.1121T>A	XP_011507494.1:p.Ile374Lys
XM_011509192.2:c.1121T>A	XP_011507494.1:p.Ile374Lys
XM_017000309.2:c.1292T>A	XP_016855798.1:p.Ile431Lys
XM_017000310.2:c.1283T>A	XP_016855799.1:p.Ile428Lys
XM_017000311.2:c.1121T>A	XP_016855800.1:p.Ile374Lys
XM_017000312.1:c.1121T>A	XP_016855801.1:p.Ile374Lys
XM_017000313.1:c.1112T>A	XP_016855802.1:p.Ile371Lys
NM_177402.5:c.1112T>A MANE Select	NP_796376.2:p.Ile371Lys