Canonical Allele Identifier: CA422578107

Gene: SYT2

Linked Data

• gnomAD v4: 1-202596805-C-A
• MyVariant Identifiers: chr1:g.202565933C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596805C>A , CM000663.2:g.202596805C>A	GRCh38
NC_000001.10:g.202565933C>A , CM000663.1:g.202565933C>A	GRCh37
NC_000001.9:g.200832556C>A	NCBI36
NG_041776.1:g.118619G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1212G>T MANE Select	ENSP00000356237.4:p.Ser404=
ENST00000367267.5:c.1212G>T	ENSP00000356236.1:p.Ser404=
ENST00000367268.4:c.1212G>T	ENSP00000356237.4:p.Ser404=
NM_001136504.1:c.1212G>T	NP_001129976.1:p.Ser404=
NM_177402.4:c.1212G>T	NP_796376.2:p.Ser404=
XM_011509192.1:c.1221G>T	XP_011507494.1:p.Ser407=
XM_011509192.2:c.1221G>T	XP_011507494.1:p.Ser407=
XM_017000309.2:c.1392G>T	XP_016855798.1:p.Ser464=
XM_017000310.2:c.1383G>T	XP_016855799.1:p.Ser461=
XM_017000311.2:c.1221G>T	XP_016855800.1:p.Ser407=
XM_017000312.1:c.1221G>T	XP_016855801.1:p.Ser407=
XM_017000313.1:c.1212G>T	XP_016855802.1:p.Ser404=
NM_177402.5:c.1212G>T MANE Select	NP_796376.2:p.Ser404=