Canonical Allele Identifier: CA1333801
Community Standard Title: NM_177402.5(SYT2):c.351C>T (p.Asp117=)
Gene: SYT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202603113G>A , CM000663.2:g.202603113G>A GRCh38
NC_000001.10:g.202572241G>A , CM000663.1:g.202572241G>A GRCh37
NC_000001.9:g.200838864G>A NCBI36
NG_041776.1:g.112311C>T

Transcript Alleles

HGVS Amino-acid Change
NM_177402.5:c.351C>T MANE Select NP_796376.2:p.Asp117=
ENST00000367268.5:c.351C>T MANE Select ENSP00000356237.4:p.Asp117=
NM_001136504.1:c.351C>T NP_001129976.1:p.Asp117=
NM_177402.4:c.351C>T NP_796376.2:p.Asp117=
ENST00000367267.5:c.351C>T ENSP00000356236.1:p.Asp117=
ENST00000367268.4:c.351C>T ENSP00000356237.4:p.Asp117=
XM_011509191.1:c.360C>T XP_011507493.1:p.Asp120=
XM_011509192.1:c.360C>T XP_011507494.1:p.Asp120=
XM_011509192.2:c.360C>T XP_011507494.1:p.Asp120=
XM_017000309.2:c.531C>T XP_016855798.1:p.Asp177=
XM_017000310.2:c.522C>T XP_016855799.1:p.Asp174=
XM_017000311.2:c.360C>T XP_016855800.1:p.Asp120=
XM_017000312.1:c.360C>T XP_016855801.1:p.Asp120=
XM_017000313.1:c.351C>T XP_016855802.1:p.Asp117=
XR_002958452.1:n.1206-377G>A
XR_922429.1:n.139-377G>A