Canonical Allele Identifier: CA541427592

Gene: SYN2

Linked Data

• dbSNP Id: rs1437161667
• gnomAD v2: 3-12181438-T-C
• MyVariant Identifiers: chr3:g.12181438T>C (hg19) ; chr3:g.12181438_12181442delinsCAATG (hg19) ; chr3:g.12139938T>C (hg38) ; chr3:g.12139938_12139942delinsCAATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12139938T>C , CM000665.2:g.12139938T>C	GRCh38
NC_000003.11:g.12181438T>C , CM000665.1:g.12181438T>C	GRCh37
NC_000003.10:g.12156438T>C	NCBI36
NG_011728.2:g.140551T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.378-713T>C MANE Select	ENSP00000480050.1:n.378-713T>C
ENST00000424884.1:n.127-713T>C
ENST00000620175.4:c.378-713T>C	ENSP00000484916.1:n.378-713T>C
ENST00000621198.4:c.378-713T>C	ENSP00000480050.1:n.378-713T>C
NM_003178.5:c.378-713T>C	NP_003169.2:n.378-713T>C
NM_133625.4:c.378-713T>C	NP_598328.1:n.378-713T>C
XM_006713311.2:c.378-713T>C	XP_006713374.1:n.378-713T>C
XM_006713311.3:c.378-713T>C	XP_006713374.1:n.378-713T>C
XR_001740240.1:n.564-713T>C
NM_133625.5:c.378-713T>C	NP_598328.1:n.378-713T>C
NM_133625.6:c.378-713T>C MANE Select	NP_598328.1:n.378-713T>C
NM_003178.6:c.378-713T>C	NP_003169.2:n.378-713T>C