Canonical Allele Identifier: CA1011275343

Gene: SYT2

Linked Data

• dbSNP Id: rs1690329498
• gnomAD v3: 1-202597174-G-A
• gnomAD v4: 1-202597174-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202597174G>A , CM000663.2:g.202597174G>A	GRCh38
NC_000001.10:g.202566302G>A , CM000663.1:g.202566302G>A	GRCh37
NC_000001.9:g.200832925G>A	NCBI36
NG_041776.1:g.118250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1054-211C>T MANE Select	ENSP00000356237.4:n.1054-211C>T
ENST00000367267.5:c.1054-211C>T	ENSP00000356236.1:n.1054-211C>T
ENST00000367268.4:c.1054-211C>T	ENSP00000356237.4:n.1054-211C>T
NM_001136504.1:c.1054-211C>T	NP_001129976.1:n.1054-211C>T
NM_177402.4:c.1054-211C>T	NP_796376.2:n.1054-211C>T
XM_011509192.1:c.1063-211C>T	XP_011507494.1:n.1063-211C>T
XR_922430.1:n.84+114G>A
XM_011509192.2:c.1063-211C>T	XP_011507494.1:n.1063-211C>T
XM_017000309.2:c.1234-211C>T	XP_016855798.1:n.1234-211C>T
XM_017000310.2:c.1225-211C>T	XP_016855799.1:n.1225-211C>T
XM_017000311.2:c.1063-211C>T	XP_016855800.1:n.1063-211C>T
XM_017000312.1:c.1063-211C>T	XP_016855801.1:n.1063-211C>T
XM_017000313.1:c.1054-211C>T	XP_016855802.1:n.1054-211C>T
NM_177402.5:c.1054-211C>T MANE Select	NP_796376.2:n.1054-211C>T