Canonical Allele Identifier: CA541427590

Gene: SYN2

Linked Data

• dbSNP Id: rs1158384556
• gnomAD v2: 3-12181313-TA-T
• gnomAD v3: 3-12139813-TA-T
• gnomAD v4: 3-12139813-TA-T
• MyVariant Identifiers: chr3:g.12181314del (hg19) ; chr3:g.12139814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12139817del , CM000665.2:g.12139817del	GRCh38
NC_000003.11:g.12181317del , CM000665.1:g.12181317del	GRCh37
NC_000003.10:g.12156317del	NCBI36
NG_011728.2:g.140430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.378-834del MANE Select	ENSP00000480050.1:n.378-834del
ENST00000424884.1:n.127-834del
ENST00000620175.4:c.378-834del	ENSP00000484916.1:n.378-834del
ENST00000621198.4:c.378-834del	ENSP00000480050.1:n.378-834del
NM_003178.5:c.378-834del	NP_003169.2:n.378-834del
NM_133625.4:c.378-834del	NP_598328.1:n.378-834del
XM_006713311.2:c.378-834del	XP_006713374.1:n.378-834del
XM_006713311.3:c.378-834del	XP_006713374.1:n.378-834del
XR_001740240.1:n.564-834del
NM_133625.5:c.378-834del	NP_598328.1:n.378-834del
NM_133625.6:c.378-834del MANE Select	NP_598328.1:n.378-834del
NM_003178.6:c.378-834del	NP_003169.2:n.378-834del