Canonical Allele Identifier: CA344255808

Gene: SYT2

Linked Data

• MyVariant Identifiers: chr1:g.202565970A>C (hg19) ; chr1:g.202596842A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596842A>C , CM000663.2:g.202596842A>C	GRCh38
NC_000001.10:g.202565970A>C , CM000663.1:g.202565970A>C	GRCh37
NC_000001.9:g.200832593A>C	NCBI36
NG_041776.1:g.118582T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367268.5:c.1175T>G MANE Select	ENSP00000356237.4:p.Leu392Arg
ENST00000367267.5:c.1175T>G	ENSP00000356236.1:p.Leu392Arg
ENST00000367268.4:c.1175T>G	ENSP00000356237.4:p.Leu392Arg
NM_001136504.1:c.1175T>G	NP_001129976.1:p.Leu392Arg
NM_177402.4:c.1175T>G	NP_796376.2:p.Leu392Arg
XM_011509192.1:c.1184T>G	XP_011507494.1:p.Leu395Arg
XM_011509192.2:c.1184T>G	XP_011507494.1:p.Leu395Arg
XM_017000309.2:c.1355T>G	XP_016855798.1:p.Leu452Arg
XM_017000310.2:c.1346T>G	XP_016855799.1:p.Leu449Arg
XM_017000311.2:c.1184T>G	XP_016855800.1:p.Leu395Arg
XM_017000312.1:c.1184T>G	XP_016855801.1:p.Leu395Arg
XM_017000313.1:c.1175T>G	XP_016855802.1:p.Leu392Arg
NM_177402.5:c.1175T>G MANE Select	NP_796376.2:p.Leu392Arg