Canonical Allele Identifier: CA1333597

Gene: SYT2

Linked Data

• dbSNP Id: rs759847818
• ExAC: 1:202565971 G / A
• gnomAD v2: 1-202565971-G-A
• gnomAD v4: 1-202596843-G-A
• MyVariant Identifiers: chr1:g.202565971G>A (hg19) ; chr1:g.202596843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596843G>A , CM000663.2:g.202596843G>A	GRCh38
NC_000001.10:g.202565971G>A , CM000663.1:g.202565971G>A	GRCh37
NC_000001.9:g.200832594G>A	NCBI36
NG_041776.1:g.118581C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367268.5:c.1174C>T MANE Select	ENSP00000356237.4:p.Leu392=
ENST00000367267.5:c.1174C>T	ENSP00000356236.1:p.Leu392=
ENST00000367268.4:c.1174C>T	ENSP00000356237.4:p.Leu392=
NM_001136504.1:c.1174C>T	NP_001129976.1:p.Leu392=
NM_177402.4:c.1174C>T	NP_796376.2:p.Leu392=
XM_011509192.1:c.1183C>T	XP_011507494.1:p.Leu395=
XM_011509192.2:c.1183C>T	XP_011507494.1:p.Leu395=
XM_017000309.2:c.1354C>T	XP_016855798.1:p.Leu452=
XM_017000310.2:c.1345C>T	XP_016855799.1:p.Leu449=
XM_017000311.2:c.1183C>T	XP_016855800.1:p.Leu395=
XM_017000312.1:c.1183C>T	XP_016855801.1:p.Leu395=
XM_017000313.1:c.1174C>T	XP_016855802.1:p.Leu392=
NM_177402.5:c.1174C>T MANE Select	NP_796376.2:p.Leu392=