Canonical Allele Identifier: CA1333571

Gene: SYT2

Linked Data

• dbSNP Id: rs769672009
• ExAC: 1:202565853 C / T
• gnomAD v2: 1-202565853-C-T
• gnomAD v3: 1-202596725-C-T
• gnomAD v4: 1-202596725-C-T
• MyVariant Identifiers: chr1:g.202565853C>T (hg19) ; chr1:g.202596725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596725C>T , CM000663.2:g.202596725C>T	GRCh38
NC_000001.10:g.202565853C>T , CM000663.1:g.202565853C>T	GRCh37
NC_000001.9:g.200832476C>T	NCBI36
NG_041776.1:g.118699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.*32G>A MANE Select	ENSP00000356237.4:n.*32G>A
ENST00000367267.5:c.*32G>A	ENSP00000356236.1:n.*32G>A
ENST00000367268.4:c.*32G>A	ENSP00000356237.4:n.*32G>A
NM_001136504.1:c.*32G>A	NP_001129976.1:n.*32G>A
NM_177402.4:c.*32G>A	NP_796376.2:n.*32G>A
XM_011509192.1:c.*32G>A	XP_011507494.1:n.*32G>A
XM_011509192.2:c.*32G>A	XP_011507494.1:n.*32G>A
XM_017000309.2:c.*32G>A	XP_016855798.1:n.*32G>A
XM_017000310.2:c.*32G>A	XP_016855799.1:n.*32G>A
XM_017000311.2:c.*32G>A	XP_016855800.1:n.*32G>A
XM_017000312.1:c.*32G>A	XP_016855801.1:n.*32G>A
XM_017000313.1:c.*32G>A	XP_016855802.1:n.*32G>A
NM_177402.5:c.*32G>A MANE Select	NP_796376.2:n.*32G>A