Canonical Allele Identifier: CA1333590

Gene: SYT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1219C>A MANE Select	ENSP00000356237.4:p.Pro407Thr
ENST00000367267.5:c.1219C>A	ENSP00000356236.1:p.Pro407Thr
ENST00000367268.4:c.1219C>A	ENSP00000356237.4:p.Pro407Thr
NM_001136504.1:c.1219C>A	NP_001129976.1:p.Pro407Thr
NM_177402.4:c.1219C>A	NP_796376.2:p.Pro407Thr
XM_011509192.1:c.1228C>A	XP_011507494.1:p.Pro410Thr
XM_011509192.2:c.1228C>A	XP_011507494.1:p.Pro410Thr
XM_017000309.2:c.1399C>A	XP_016855798.1:p.Pro467Thr
XM_017000310.2:c.1390C>A	XP_016855799.1:p.Pro464Thr
XM_017000311.2:c.1228C>A	XP_016855800.1:p.Pro410Thr
XM_017000312.1:c.1228C>A	XP_016855801.1:p.Pro410Thr
XM_017000313.1:c.1219C>A	XP_016855802.1:p.Pro407Thr
NM_177402.5:c.1219C>A MANE Select	NP_796376.2:p.Pro407Thr