Canonical Allele Identifier: CA344255655

Gene: SYT2

Linked Data

• ClinVar Variation Id: 3173002
• ClinVar RCV Id: RCV004465908
• dbSNP Id: rs1453017252
• gnomAD v2: 1-202565911-C-T
• gnomAD v3: 1-202596783-C-T
• gnomAD v4: 1-202596783-C-T
• COSMIC: COSM5902234
• MyVariant Identifiers: chr1:g.202565911C>T (hg19) ; chr1:g.202596783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596783C>T , CM000663.2:g.202596783C>T	GRCh38
NC_000001.10:g.202565911C>T , CM000663.1:g.202565911C>T	GRCh37
NC_000001.9:g.200832534C>T	NCBI36
NG_041776.1:g.118641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1234G>A MANE Select	ENSP00000356237.4:p.Asp412Asn
ENST00000367267.5:c.1234G>A	ENSP00000356236.1:p.Asp412Asn
ENST00000367268.4:c.1234G>A	ENSP00000356237.4:p.Asp412Asn
NM_001136504.1:c.1234G>A	NP_001129976.1:p.Asp412Asn
NM_177402.4:c.1234G>A	NP_796376.2:p.Asp412Asn
XM_011509192.1:c.1243G>A	XP_011507494.1:p.Asp415Asn
XM_011509192.2:c.1243G>A	XP_011507494.1:p.Asp415Asn
XM_017000309.2:c.1414G>A	XP_016855798.1:p.Asp472Asn
XM_017000310.2:c.1405G>A	XP_016855799.1:p.Asp469Asn
XM_017000311.2:c.1243G>A	XP_016855800.1:p.Asp415Asn
XM_017000312.1:c.1243G>A	XP_016855801.1:p.Asp415Asn
XM_017000313.1:c.1234G>A	XP_016855802.1:p.Asp412Asn
NM_177402.5:c.1234G>A MANE Select	NP_796376.2:p.Asp412Asn