Canonical Allele Identifier: CA344255634

Gene: SYT2

Linked Data

• MyVariant Identifiers: chr1:g.202565904A>T (hg19) ; chr1:g.202596776A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596776A>T , CM000663.2:g.202596776A>T	GRCh38
NC_000001.10:g.202565904A>T , CM000663.1:g.202565904A>T	GRCh37
NC_000001.9:g.200832527A>T	NCBI36
NG_041776.1:g.118648T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1241T>A MANE Select	ENSP00000356237.4:p.Leu414His
ENST00000367267.5:c.1241T>A	ENSP00000356236.1:p.Leu414His
ENST00000367268.4:c.1241T>A	ENSP00000356237.4:p.Leu414His
NM_001136504.1:c.1241T>A	NP_001129976.1:p.Leu414His
NM_177402.4:c.1241T>A	NP_796376.2:p.Leu414His
XM_011509192.1:c.1250T>A	XP_011507494.1:p.Leu417His
XM_011509192.2:c.1250T>A	XP_011507494.1:p.Leu417His
XM_017000309.2:c.1421T>A	XP_016855798.1:p.Leu474His
XM_017000310.2:c.1412T>A	XP_016855799.1:p.Leu471His
XM_017000311.2:c.1250T>A	XP_016855800.1:p.Leu417His
XM_017000312.1:c.1250T>A	XP_016855801.1:p.Leu417His
XM_017000313.1:c.1241T>A	XP_016855802.1:p.Leu414His
NM_177402.5:c.1241T>A MANE Select	NP_796376.2:p.Leu414His