Canonical Allele Identifier: CA1045117806

Gene: SYN2

Linked Data

• dbSNP Id: rs1694176836
• gnomAD v3: 3-12022976-G-T
• gnomAD v4: 3-12022976-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12022976G>T , CM000665.2:g.12022976G>T	GRCh38
NC_000003.11:g.12064476G>T , CM000665.1:g.12064476G>T	GRCh37
NC_000003.10:g.12039476G>T	NCBI36
NG_011728.2:g.23589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621198.5:c.377+18048G>T MANE Select	ENSP00000480050.1:n.377+18048G>T
ENST00000620175.4:c.377+18048G>T	ENSP00000484916.1:n.377+18048G>T
ENST00000621198.4:c.377+18048G>T	ENSP00000480050.1:n.377+18048G>T
NM_003178.5:c.377+18048G>T	NP_003169.2:n.377+18048G>T
NM_133625.4:c.377+18048G>T	NP_598328.1:n.377+18048G>T
XM_006713311.2:c.377+18048G>T	XP_006713374.1:n.377+18048G>T
XM_006713311.3:c.377+18048G>T	XP_006713374.1:n.377+18048G>T
XR_001740240.1:n.563+18048G>T
NM_133625.5:c.377+18048G>T	NP_598328.1:n.377+18048G>T
NM_133625.6:c.377+18048G>T MANE Select	NP_598328.1:n.377+18048G>T
NM_003178.6:c.377+18048G>T	NP_003169.2:n.377+18048G>T