Canonical Allele Identifier: CA1333606

Gene: SYT2

Linked Data

• ClinVar Variation Id: 1370570
• ClinVar RCV Id: RCV001877228
• dbSNP Id: rs755872338
• ExAC: 1:202566043 T / C
• gnomAD v2: 1-202566043-T-C
• gnomAD v4: 1-202596915-T-C
• MyVariant Identifiers: chr1:g.202566043T>C (hg19) ; chr1:g.202596915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596915T>C , CM000663.2:g.202596915T>C	GRCh38
NC_000001.10:g.202566043T>C , CM000663.1:g.202566043T>C	GRCh37
NC_000001.9:g.200832666T>C	NCBI36
NG_041776.1:g.118509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1102A>G MANE Select	ENSP00000356237.4:p.Asn368Asp
ENST00000367267.5:c.1102A>G	ENSP00000356236.1:p.Asn368Asp
ENST00000367268.4:c.1102A>G	ENSP00000356237.4:p.Asn368Asp
NM_001136504.1:c.1102A>G	NP_001129976.1:p.Asn368Asp
NM_177402.4:c.1102A>G	NP_796376.2:p.Asn368Asp
XM_011509192.1:c.1111A>G	XP_011507494.1:p.Asn371Asp
XM_011509192.2:c.1111A>G	XP_011507494.1:p.Asn371Asp
XM_017000309.2:c.1282A>G	XP_016855798.1:p.Asn428Asp
XM_017000310.2:c.1273A>G	XP_016855799.1:p.Asn425Asp
XM_017000311.2:c.1111A>G	XP_016855800.1:p.Asn371Asp
XM_017000312.1:c.1111A>G	XP_016855801.1:p.Asn371Asp
XM_017000313.1:c.1102A>G	XP_016855802.1:p.Asn368Asp
NM_177402.5:c.1102A>G MANE Select	NP_796376.2:p.Asn368Asp