Canonical Allele Identifier: CA1333578

Gene: SYT2

Linked Data

• dbSNP Id: rs766721785
• ExAC: 1:202565875 C / G
• gnomAD v2: 1-202565875-C-G
• gnomAD v4: 1-202596747-C-G
• MyVariant Identifiers: chr1:g.202565875C>G (hg19) ; chr1:g.202596747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596747C>G , CM000663.2:g.202596747C>G	GRCh38
NC_000001.10:g.202565875C>G , CM000663.1:g.202565875C>G	GRCh37
NC_000001.9:g.200832498C>G	NCBI36
NG_041776.1:g.118677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.*10G>C MANE Select	ENSP00000356237.4:n.*10G>C
ENST00000367267.5:c.*10G>C	ENSP00000356236.1:n.*10G>C
ENST00000367268.4:c.*10G>C	ENSP00000356237.4:n.*10G>C
NM_001136504.1:c.*10G>C	NP_001129976.1:n.*10G>C
NM_177402.4:c.*10G>C	NP_796376.2:n.*10G>C
XM_011509192.1:c.*10G>C	XP_011507494.1:n.*10G>C
XM_011509192.2:c.*10G>C	XP_011507494.1:n.*10G>C
XM_017000309.2:c.*10G>C	XP_016855798.1:n.*10G>C
XM_017000310.2:c.*10G>C	XP_016855799.1:n.*10G>C
XM_017000311.2:c.*10G>C	XP_016855800.1:n.*10G>C
XM_017000312.1:c.*10G>C	XP_016855801.1:n.*10G>C
XM_017000313.1:c.*10G>C	XP_016855802.1:n.*10G>C
NM_177402.5:c.*10G>C MANE Select	NP_796376.2:n.*10G>C