Canonical Allele Identifier: CA1333589

Gene: SYT2

Linked Data

• dbSNP Id: rs769733229
• ExAC: 1:202565926 G / A
• gnomAD v2: 1-202565926-G-A
• gnomAD v3: 1-202596798-G-A
• gnomAD v4: 1-202596798-G-A
• MyVariant Identifiers: chr1:g.202565926G>A (hg19) ; chr1:g.202596798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596798G>A , CM000663.2:g.202596798G>A	GRCh38
NC_000001.10:g.202565926G>A , CM000663.1:g.202565926G>A	GRCh37
NC_000001.9:g.200832549G>A	NCBI36
NG_041776.1:g.118626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1219C>T MANE Select	ENSP00000356237.4:p.Pro407Ser
ENST00000367267.5:c.1219C>T	ENSP00000356236.1:p.Pro407Ser
ENST00000367268.4:c.1219C>T	ENSP00000356237.4:p.Pro407Ser
NM_001136504.1:c.1219C>T	NP_001129976.1:p.Pro407Ser
NM_177402.4:c.1219C>T	NP_796376.2:p.Pro407Ser
XM_011509192.1:c.1228C>T	XP_011507494.1:p.Pro410Ser
XM_011509192.2:c.1228C>T	XP_011507494.1:p.Pro410Ser
XM_017000309.2:c.1399C>T	XP_016855798.1:p.Pro467Ser
XM_017000310.2:c.1390C>T	XP_016855799.1:p.Pro464Ser
XM_017000311.2:c.1228C>T	XP_016855800.1:p.Pro410Ser
XM_017000312.1:c.1228C>T	XP_016855801.1:p.Pro410Ser
XM_017000313.1:c.1219C>T	XP_016855802.1:p.Pro407Ser
NM_177402.5:c.1219C>T MANE Select	NP_796376.2:p.Pro407Ser