Canonical Allele Identifier: CA1333671

Gene: SYT2

Linked Data

• ClinVar Variation Id: 444191
• ClinVar RCV Id: RCV000512774
• dbSNP Id: rs780359132
• ExAC: 1:202569501 G / A
• gnomAD v2: 1-202569501-G-A
• gnomAD v3: 1-202600373-G-A
• gnomAD v4: 1-202600373-G-A
• MyVariant Identifiers: chr1:g.202569501G>A (hg19) ; chr1:g.202600373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202600373G>A , CM000663.2:g.202600373G>A	GRCh38
NC_000001.10:g.202569501G>A , CM000663.1:g.202569501G>A	GRCh37
NC_000001.9:g.200836124G>A	NCBI36
NG_041776.1:g.115051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.903C>T MANE Select	ENSP00000356237.4:p.Asp301=
ENST00000367267.5:c.903C>T	ENSP00000356236.1:p.Asp301=
ENST00000367268.4:c.903C>T	ENSP00000356237.4:p.Asp301=
NM_001136504.1:c.903C>T	NP_001129976.1:p.Asp301=
NM_177402.4:c.903C>T	NP_796376.2:p.Asp301=
XM_011509191.1:c.912C>T	XP_011507493.1:p.Asp304=
XM_011509192.1:c.912C>T	XP_011507494.1:p.Asp304=
XR_922430.1:n.376+454G>A
XR_922431.1:n.359+454G>A
XM_011509192.2:c.912C>T	XP_011507494.1:p.Asp304=
XM_017000309.2:c.1083C>T	XP_016855798.1:p.Asp361=
XM_017000310.2:c.1074C>T	XP_016855799.1:p.Asp358=
XM_017000311.2:c.912C>T	XP_016855800.1:p.Asp304=
XM_017000312.1:c.912C>T	XP_016855801.1:p.Asp304=
XM_017000313.1:c.903C>T	XP_016855802.1:p.Asp301=
XR_002958452.1:n.964+454G>A
NM_177402.5:c.903C>T MANE Select	NP_796376.2:p.Asp301=