Canonical Allele Identifier: CA344256170

Gene: SYT2

Linked Data

• ClinVar Variation Id: 2444098
• ClinVar RCV Id: RCV003152896
• MyVariant Identifiers: chr1:g.202566064C>T (hg19) ; chr1:g.202596936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596936C>T , CM000663.2:g.202596936C>T	GRCh38
NC_000001.10:g.202566064C>T , CM000663.1:g.202566064C>T	GRCh37
NC_000001.9:g.200832687C>T	NCBI36
NG_041776.1:g.118488G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367268.5:c.1081G>A MANE Select	ENSP00000356237.4:p.Asp361Asn
ENST00000367267.5:c.1081G>A	ENSP00000356236.1:p.Asp361Asn
ENST00000367268.4:c.1081G>A	ENSP00000356237.4:p.Asp361Asn
NM_001136504.1:c.1081G>A	NP_001129976.1:p.Asp361Asn
NM_177402.4:c.1081G>A	NP_796376.2:p.Asp361Asn
XM_011509192.1:c.1090G>A	XP_011507494.1:p.Asp364Asn
XM_011509192.2:c.1090G>A	XP_011507494.1:p.Asp364Asn
XM_017000309.2:c.1261G>A	XP_016855798.1:p.Asp421Asn
XM_017000310.2:c.1252G>A	XP_016855799.1:p.Asp418Asn
XM_017000311.2:c.1090G>A	XP_016855800.1:p.Asp364Asn
XM_017000312.1:c.1090G>A	XP_016855801.1:p.Asp364Asn
XM_017000313.1:c.1081G>A	XP_016855802.1:p.Asp361Asn
NM_177402.5:c.1081G>A MANE Select	NP_796376.2:p.Asp361Asn