Canonical Allele Identifier: CA10683146
Community Standard Title: NM_001040709.2(SYPL2):c.649-163T>C
Gene: SYPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109479215T>C , CM000663.2:g.109479215T>C GRCh38
NC_000001.10:g.110021837T>C , CM000663.1:g.110021837T>C GRCh37
NC_000001.9:g.109823360T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001040709.2:c.649-163T>C MANE Select NP_001035799.1:n.649-163T>C
ENST00000369872.4:c.649-163T>C MANE Select ENSP00000358888.3:n.649-163T>C
NM_001040709.1:c.649-163T>C NP_001035799.1:n.649-163T>C
ENST00000369872.3:c.649-163T>C ENSP00000358888.3:n.649-163T>C
XM_005270773.3:c.*4-163T>C XP_005270830.1:n.*4-163T>C
XM_011541283.1:c.649-163T>C XP_011539585.1:n.649-163T>C
XM_011541283.2:c.649-163T>C XP_011539585.1:n.649-163T>C
XM_011541284.1:c.457-163T>C XP_011539586.1:n.457-163T>C
XM_011541284.2:c.457-163T>C XP_011539586.1:n.457-163T>C
XM_011541285.1:c.457-163T>C XP_011539587.1:n.457-163T>C