Canonical Allele Identifier: CA344256189

Gene: SYT2

Linked Data

• gnomAD v4: 1-202596944-G-A
• COSMIC: COSM2150089
• MyVariant Identifiers: chr1:g.202566072G>A (hg19) ; chr1:g.202596944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596944G>A , CM000663.2:g.202596944G>A	GRCh38
NC_000001.10:g.202566072G>A , CM000663.1:g.202566072G>A	GRCh37
NC_000001.9:g.200832695G>A	NCBI36
NG_041776.1:g.118480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1073C>T MANE Select	ENSP00000356237.4:p.Thr358Ile
ENST00000367267.5:c.1073C>T	ENSP00000356236.1:p.Thr358Ile
ENST00000367268.4:c.1073C>T	ENSP00000356237.4:p.Thr358Ile
NM_001136504.1:c.1073C>T	NP_001129976.1:p.Thr358Ile
NM_177402.4:c.1073C>T	NP_796376.2:p.Thr358Ile
XM_011509192.1:c.1082C>T	XP_011507494.1:p.Thr361Ile
XM_011509192.2:c.1082C>T	XP_011507494.1:p.Thr361Ile
XM_017000309.2:c.1253C>T	XP_016855798.1:p.Thr418Ile
XM_017000310.2:c.1244C>T	XP_016855799.1:p.Thr415Ile
XM_017000311.2:c.1082C>T	XP_016855800.1:p.Thr361Ile
XM_017000312.1:c.1082C>T	XP_016855801.1:p.Thr361Ile
XM_017000313.1:c.1073C>T	XP_016855802.1:p.Thr358Ile
NM_177402.5:c.1073C>T MANE Select	NP_796376.2:p.Thr358Ile