Canonical Allele Identifier: CA528129006

Gene: SYT2

Linked Data

• dbSNP Id: rs1048608995
• gnomAD v2: 1-202565757-A-T
• gnomAD v3: 1-202596629-A-T
• gnomAD v4: 1-202596629-A-T
• MyVariant Identifiers: chr1:g.202565757A>T (hg19) ; chr1:g.202596629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596629A>T , CM000663.2:g.202596629A>T	GRCh38
NC_000001.10:g.202565757A>T , CM000663.1:g.202565757A>T	GRCh37
NC_000001.9:g.200832380A>T	NCBI36
NG_041776.1:g.118795T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.*128T>A MANE Select	ENSP00000356237.4:n.*128T>A
ENST00000367267.5:c.*128T>A	ENSP00000356236.1:n.*128T>A
ENST00000367268.4:c.*128T>A	ENSP00000356237.4:n.*128T>A
NM_001136504.1:c.*128T>A	NP_001129976.1:n.*128T>A
NM_177402.4:c.*128T>A	NP_796376.2:n.*128T>A
XM_011509192.1:c.*128T>A	XP_011507494.1:n.*128T>A
XM_011509192.2:c.*128T>A	XP_011507494.1:n.*128T>A
XM_017000309.2:c.*128T>A	XP_016855798.1:n.*128T>A
XM_017000311.2:c.*128T>A	XP_016855800.1:n.*128T>A
XM_017000312.1:c.*128T>A	XP_016855801.1:n.*128T>A
XM_017000313.1:c.*128T>A	XP_016855802.1:n.*128T>A
NM_177402.5:c.*128T>A MANE Select	NP_796376.2:n.*128T>A