Canonical Allele Identifier: CA2592568299
Gene: SYN2 HGNC NCBI

Linked Data

gnomAD v3: 3-12140044-T-C
gnomAD v4: 3-12140044-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12140044T>C , CM000665.2:g.12140044T>C GRCh38
NC_000003.11:g.12181544T>C , CM000665.1:g.12181544T>C GRCh37
NC_000003.10:g.12156544T>C NCBI36
NG_011728.2:g.140657T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000621198.5:c.378-607T>C MANE Select ENSP00000480050.1:n.378-607T>C
ENST00000424884.1:n.127-607T>C
ENST00000620175.4:c.378-607T>C ENSP00000484916.1:n.378-607T>C
ENST00000621198.4:c.378-607T>C ENSP00000480050.1:n.378-607T>C
NM_003178.5:c.378-607T>C NP_003169.2:n.378-607T>C
NM_133625.4:c.378-607T>C NP_598328.1:n.378-607T>C
XM_006713311.2:c.378-607T>C XP_006713374.1:n.378-607T>C
XM_006713311.3:c.378-607T>C XP_006713374.1:n.378-607T>C
XR_001740240.1:n.564-607T>C
NM_133625.5:c.378-607T>C NP_598328.1:n.378-607T>C
NM_133625.6:c.378-607T>C MANE Select NP_598328.1:n.378-607T>C
NM_003178.6:c.378-607T>C NP_003169.2:n.378-607T>C