Canonical Allele Identifier: CA344256169

Gene: SYT2

Linked Data

• ClinVar Variation Id: 816798
• ClinVar RCV Id: RCV001007794
• dbSNP Id: rs1572604296
• MyVariant Identifiers: chr1:g.202566064C>G (hg19) ; chr1:g.202596936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596936C>G , CM000663.2:g.202596936C>G	GRCh38
NC_000001.10:g.202566064C>G , CM000663.1:g.202566064C>G	GRCh37
NC_000001.9:g.200832687C>G	NCBI36
NG_041776.1:g.118488G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367268.5:c.1081G>C MANE Select	ENSP00000356237.4:p.Asp361His
ENST00000367267.5:c.1081G>C	ENSP00000356236.1:p.Asp361His
ENST00000367268.4:c.1081G>C	ENSP00000356237.4:p.Asp361His
NM_001136504.1:c.1081G>C	NP_001129976.1:p.Asp361His
NM_177402.4:c.1081G>C	NP_796376.2:p.Asp361His
XM_011509192.1:c.1090G>C	XP_011507494.1:p.Asp364His
XM_011509192.2:c.1090G>C	XP_011507494.1:p.Asp364His
XM_017000309.2:c.1261G>C	XP_016855798.1:p.Asp421His
XM_017000310.2:c.1252G>C	XP_016855799.1:p.Asp418His
XM_017000311.2:c.1090G>C	XP_016855800.1:p.Asp364His
XM_017000312.1:c.1090G>C	XP_016855801.1:p.Asp364His
XM_017000313.1:c.1081G>C	XP_016855802.1:p.Asp361His
NM_177402.5:c.1081G>C MANE Select	NP_796376.2:p.Asp361His