Canonical Allele Identifier: CA35574995

Gene: SYT2

Linked Data

• dbSNP Id: rs991730108
• gnomAD v3: 1-202596794-T-G
• gnomAD v4: 1-202596794-T-G
• MyVariant Identifiers: chr1:g.202565922T>G (hg19) ; chr1:g.202596794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596794T>G , CM000663.2:g.202596794T>G	GRCh38
NC_000001.10:g.202565922T>G , CM000663.1:g.202565922T>G	GRCh37
NC_000001.9:g.200832545T>G	NCBI36
NG_041776.1:g.118630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1223A>C MANE Select	ENSP00000356237.4:p.Glu408Ala
ENST00000367267.5:c.1223A>C	ENSP00000356236.1:p.Glu408Ala
ENST00000367268.4:c.1223A>C	ENSP00000356237.4:p.Glu408Ala
NM_001136504.1:c.1223A>C	NP_001129976.1:p.Glu408Ala
NM_177402.4:c.1223A>C	NP_796376.2:p.Glu408Ala
XM_011509192.1:c.1232A>C	XP_011507494.1:p.Glu411Ala
XM_011509192.2:c.1232A>C	XP_011507494.1:p.Glu411Ala
XM_017000309.2:c.1403A>C	XP_016855798.1:p.Glu468Ala
XM_017000310.2:c.1394A>C	XP_016855799.1:p.Glu465Ala
XM_017000311.2:c.1232A>C	XP_016855800.1:p.Glu411Ala
XM_017000312.1:c.1232A>C	XP_016855801.1:p.Glu411Ala
XM_017000313.1:c.1223A>C	XP_016855802.1:p.Glu408Ala
NM_177402.5:c.1223A>C MANE Select	NP_796376.2:p.Glu408Ala