Canonical Allele Identifier: CA1333583

Gene: SYT2

Linked Data

• dbSNP Id: rs200149183
• ExAC: 1:202565891 G / C
• gnomAD v2: 1-202565891-G-C
• gnomAD v4: 1-202596763-G-C
• MyVariant Identifiers: chr1:g.202565891G>C (hg19) ; chr1:g.202596763G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596763G>C , CM000663.2:g.202596763G>C	GRCh38
NC_000001.10:g.202565891G>C , CM000663.1:g.202565891G>C	GRCh37
NC_000001.9:g.200832514G>C	NCBI36
NG_041776.1:g.118661C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1254C>G MANE Select	ENSP00000356237.4:p.Asn418Lys
ENST00000367267.5:c.1254C>G	ENSP00000356236.1:p.Asn418Lys
ENST00000367268.4:c.1254C>G	ENSP00000356237.4:p.Asn418Lys
NM_001136504.1:c.1254C>G	NP_001129976.1:p.Asn418Lys
NM_177402.4:c.1254C>G	NP_796376.2:p.Asn418Lys
XM_011509192.1:c.1263C>G	XP_011507494.1:p.Asn421Lys
XM_011509192.2:c.1263C>G	XP_011507494.1:p.Asn421Lys
XM_017000309.2:c.1434C>G	XP_016855798.1:p.Asn478Lys
XM_017000310.2:c.1425C>G	XP_016855799.1:p.Asn475Lys
XM_017000311.2:c.1263C>G	XP_016855800.1:p.Asn421Lys
XM_017000312.1:c.1263C>G	XP_016855801.1:p.Asn421Lys
XM_017000313.1:c.1254C>G	XP_016855802.1:p.Asn418Lys
NM_177402.5:c.1254C>G MANE Select	NP_796376.2:p.Asn418Lys