Canonical Allele Identifier: CA344255654

Gene: SYT2

Linked Data

• gnomAD v4: 1-202596783-C-G
• MyVariant Identifiers: chr1:g.202565911C>G (hg19) ; chr1:g.202596783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596783C>G , CM000663.2:g.202596783C>G	GRCh38
NC_000001.10:g.202565911C>G , CM000663.1:g.202565911C>G	GRCh37
NC_000001.9:g.200832534C>G	NCBI36
NG_041776.1:g.118641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1234G>C MANE Select	ENSP00000356237.4:p.Asp412His
ENST00000367267.5:c.1234G>C	ENSP00000356236.1:p.Asp412His
ENST00000367268.4:c.1234G>C	ENSP00000356237.4:p.Asp412His
NM_001136504.1:c.1234G>C	NP_001129976.1:p.Asp412His
NM_177402.4:c.1234G>C	NP_796376.2:p.Asp412His
XM_011509192.1:c.1243G>C	XP_011507494.1:p.Asp415His
XM_011509192.2:c.1243G>C	XP_011507494.1:p.Asp415His
XM_017000309.2:c.1414G>C	XP_016855798.1:p.Asp472His
XM_017000310.2:c.1405G>C	XP_016855799.1:p.Asp469His
XM_017000311.2:c.1243G>C	XP_016855800.1:p.Asp415His
XM_017000312.1:c.1243G>C	XP_016855801.1:p.Asp415His
XM_017000313.1:c.1234G>C	XP_016855802.1:p.Asp412His
NM_177402.5:c.1234G>C MANE Select	NP_796376.2:p.Asp412His