Canonical Allele Identifier: CA344255636

Gene: SYT2

Linked Data

• MyVariant Identifiers: chr1:g.202565905G>C (hg19) ; chr1:g.202596777G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202596777G>C , CM000663.2:g.202596777G>C	GRCh38
NC_000001.10:g.202565905G>C , CM000663.1:g.202565905G>C	GRCh37
NC_000001.9:g.200832528G>C	NCBI36
NG_041776.1:g.118647C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367268.5:c.1240C>G MANE Select	ENSP00000356237.4:p.Leu414Val
ENST00000367267.5:c.1240C>G	ENSP00000356236.1:p.Leu414Val
ENST00000367268.4:c.1240C>G	ENSP00000356237.4:p.Leu414Val
NM_001136504.1:c.1240C>G	NP_001129976.1:p.Leu414Val
NM_177402.4:c.1240C>G	NP_796376.2:p.Leu414Val
XM_011509192.1:c.1249C>G	XP_011507494.1:p.Leu417Val
XM_011509192.2:c.1249C>G	XP_011507494.1:p.Leu417Val
XM_017000309.2:c.1420C>G	XP_016855798.1:p.Leu474Val
XM_017000310.2:c.1411C>G	XP_016855799.1:p.Leu471Val
XM_017000311.2:c.1249C>G	XP_016855800.1:p.Leu417Val
XM_017000312.1:c.1249C>G	XP_016855801.1:p.Leu417Val
XM_017000313.1:c.1240C>G	XP_016855802.1:p.Leu414Val
NM_177402.5:c.1240C>G MANE Select	NP_796376.2:p.Leu414Val