Canonical Allele Identifier: CA422578138
Gene: SYT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.202565969C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202596841C>A , CM000663.2:g.202596841C>A GRCh38
NC_000001.10:g.202565969C>A , CM000663.1:g.202565969C>A GRCh37
NC_000001.9:g.200832592C>A NCBI36
NG_041776.1:g.118583G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367268.5:c.1176G>T MANE Select ENSP00000356237.4:p.Leu392=
ENST00000367267.5:c.1176G>T ENSP00000356236.1:p.Leu392=
ENST00000367268.4:c.1176G>T ENSP00000356237.4:p.Leu392=
NM_001136504.1:c.1176G>T NP_001129976.1:p.Leu392=
NM_177402.4:c.1176G>T NP_796376.2:p.Leu392=
XM_011509192.1:c.1185G>T XP_011507494.1:p.Leu395=
XM_011509192.2:c.1185G>T XP_011507494.1:p.Leu395=
XM_017000309.2:c.1356G>T XP_016855798.1:p.Leu452=
XM_017000310.2:c.1347G>T XP_016855799.1:p.Leu449=
XM_017000311.2:c.1185G>T XP_016855800.1:p.Leu395=
XM_017000312.1:c.1185G>T XP_016855801.1:p.Leu395=
XM_017000313.1:c.1176G>T XP_016855802.1:p.Leu392=
NM_177402.5:c.1176G>T MANE Select NP_796376.2:p.Leu392=