Canonical Allele Identifier: CA1045131913

Gene: SYN2

Linked Data

• dbSNP Id: rs1698379491
• gnomAD v3: 3-12187970-A-T
• gnomAD v4: 3-12187970-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12187970A>T , CM000665.2:g.12187970A>T	GRCh38
NC_000003.11:g.12229470A>T , CM000665.1:g.12229470A>T	GRCh37
NC_000003.10:g.12204470A>T	NCBI36
NG_011728.2:g.188583A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.1613+358A>T MANE Select	ENSP00000480050.1:n.1613+358A>T
ENST00000439861.5:n.1232+358A>T
ENST00000621198.4:c.1613+358A>T	ENSP00000480050.1:n.1613+358A>T
NM_133625.4:c.1613+358A>T	NP_598328.1:n.1613+358A>T
XM_006713312.2:c.1130+358A>T	XP_006713375.1:n.1130+358A>T
XM_006713313.2:c.842+358A>T	XP_006713376.1:n.842+358A>T
XM_006713312.4:c.1130+358A>T	XP_006713375.1:n.1130+358A>T
XM_017007087.1:c.941+358A>T	XP_016862576.1:n.941+358A>T
NM_133625.5:c.1613+358A>T	NP_598328.1:n.1613+358A>T
NM_133625.6:c.1613+358A>T MANE Select	NP_598328.1:n.1613+358A>T