Canonical Allele Identifier: CA215041

Gene: SYT2

Linked Data

• ClinVar Variation Id: 156369
• ClinVar RCV Id: RCV000144452 ; RCV001266070 ; RCV001857492
• dbSNP Id: rs587777782
• MyVariant Identifiers: chr1:g.202568476G>A (hg19) ; chr1:g.202599348G>A (hg38)
• PubMed: PMID:25192047

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202599348G>A , CM000663.2:g.202599348G>A	GRCh38
NC_000001.10:g.202568476G>A , CM000663.1:g.202568476G>A	GRCh37
NC_000001.9:g.200835099G>A	NCBI36
NG_041776.1:g.116076C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367268.5:c.923C>T MANE Select	ENSP00000356237.4:p.Pro308Leu
ENST00000367267.5:c.923C>T	ENSP00000356236.1:p.Pro308Leu
ENST00000367268.4:c.923C>T	ENSP00000356237.4:p.Pro308Leu
NM_001136504.1:c.923C>T	NP_001129976.1:p.Pro308Leu
NM_177402.4:c.923C>T	NP_796376.2:p.Pro308Leu
XM_011509191.1:c.932C>T	XP_011507493.1:p.Pro311Leu
XM_011509192.1:c.932C>T	XP_011507494.1:p.Pro311Leu
XR_922430.1:n.184+214G>A
XR_922431.1:n.167+214G>A
XM_011509192.2:c.932C>T	XP_011507494.1:p.Pro311Leu
XM_017000309.2:c.1103C>T	XP_016855798.1:p.Pro368Leu
XM_017000310.2:c.1094C>T	XP_016855799.1:p.Pro365Leu
XM_017000311.2:c.932C>T	XP_016855800.1:p.Pro311Leu
XM_017000312.1:c.932C>T	XP_016855801.1:p.Pro311Leu
XM_017000313.1:c.923C>T	XP_016855802.1:p.Pro308Leu
XR_002958452.1:n.393G>A
NM_177402.5:c.923C>T MANE Select	NP_796376.2:p.Pro308Leu