Canonical Allele Identifier: CA344256183

Gene: SYT2

Linked Data

• ClinVar Variation Id: 2420137
• ClinVar RCV Id: RCV003118662
• dbSNP Id: rs1690319320
• gnomAD v3: 1-202596942-C-T
• gnomAD v4: 1-202596942-C-T
• COSMIC: COSM4731735
• MyVariant Identifiers: chr1:g.202566070C>T (hg19) ; chr1:g.202596942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596942C>T , CM000663.2:g.202596942C>T	GRCh38
NC_000001.10:g.202566070C>T , CM000663.1:g.202566070C>T	GRCh37
NC_000001.9:g.200832693C>T	NCBI36
NG_041776.1:g.118482G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367268.5:c.1075G>A MANE Select	ENSP00000356237.4:p.Val359Met
ENST00000367267.5:c.1075G>A	ENSP00000356236.1:p.Val359Met
ENST00000367268.4:c.1075G>A	ENSP00000356237.4:p.Val359Met
NM_001136504.1:c.1075G>A	NP_001129976.1:p.Val359Met
NM_177402.4:c.1075G>A	NP_796376.2:p.Val359Met
XM_011509192.1:c.1084G>A	XP_011507494.1:p.Val362Met
XM_011509192.2:c.1084G>A	XP_011507494.1:p.Val362Met
XM_017000309.2:c.1255G>A	XP_016855798.1:p.Val419Met
XM_017000310.2:c.1246G>A	XP_016855799.1:p.Val416Met
XM_017000311.2:c.1084G>A	XP_016855800.1:p.Val362Met
XM_017000312.1:c.1084G>A	XP_016855801.1:p.Val362Met
XM_017000313.1:c.1075G>A	XP_016855802.1:p.Val359Met
NM_177402.5:c.1075G>A MANE Select	NP_796376.2:p.Val359Met