Canonical Allele Identifier: CA2501689678

Gene: SV2C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.76143440A>G , CM000667.2:g.76143440A>G	GRCh38
NC_000005.9:g.75439265A>G , CM000667.1:g.75439265A>G	GRCh37
NC_000005.8:g.75475021A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502798.7:c.580+11110A>G MANE Select	ENSP00000423541.2:n.580+11110A>G
ENST00000322285.7:c.580+11110A>G	ENSP00000316983.7:n.580+11110A>G
ENST00000502798.6:c.580+11110A>G	ENSP00000423541.2:n.580+11110A>G
NM_001297716.1:c.580+11110A>G	NP_001284645.1:n.580+11110A>G
NM_014979.3:c.580+11110A>G	NP_055794.3:n.580+11110A>G
XM_011543281.1:c.580+11110A>G	XP_011541583.1:n.580+11110A>G
XM_011543282.1:c.8+11110A>G	XP_011541584.1:n.8+11110A>G
XM_011543281.3:c.580+11110A>G	XP_011541583.1:n.580+11110A>G
XM_011543282.3:c.580+11110A>G	XP_011541584.2:n.580+11110A>G
NM_014979.4:c.580+11110A>G MANE Select	NP_055794.3:n.580+11110A>G
NM_001297716.2:c.580+11110A>G	NP_001284645.1:n.580+11110A>G