Canonical Allele Identifier: CA344255972

Gene: SYT2

Linked Data

• gnomAD v4: 1-202596891-C-G
• MyVariant Identifiers: chr1:g.202566019C>G (hg19) ; chr1:g.202596891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596891C>G , CM000663.2:g.202596891C>G	GRCh38
NC_000001.10:g.202566019C>G , CM000663.1:g.202566019C>G	GRCh37
NC_000001.9:g.200832642C>G	NCBI36
NG_041776.1:g.118533G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1126G>C MANE Select	ENSP00000356237.4:p.Val376Leu
ENST00000367267.5:c.1126G>C	ENSP00000356236.1:p.Val376Leu
ENST00000367268.4:c.1126G>C	ENSP00000356237.4:p.Val376Leu
NM_001136504.1:c.1126G>C	NP_001129976.1:p.Val376Leu
NM_177402.4:c.1126G>C	NP_796376.2:p.Val376Leu
XM_011509192.1:c.1135G>C	XP_011507494.1:p.Val379Leu
XM_011509192.2:c.1135G>C	XP_011507494.1:p.Val379Leu
XM_017000309.2:c.1306G>C	XP_016855798.1:p.Val436Leu
XM_017000310.2:c.1297G>C	XP_016855799.1:p.Val433Leu
XM_017000311.2:c.1135G>C	XP_016855800.1:p.Val379Leu
XM_017000312.1:c.1135G>C	XP_016855801.1:p.Val379Leu
XM_017000313.1:c.1126G>C	XP_016855802.1:p.Val376Leu
NM_177402.5:c.1126G>C MANE Select	NP_796376.2:p.Val376Leu