Canonical Allele Identifier: CA2581490355

Gene: SV2C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.76191426C>G , CM000667.2:g.76191426C>G	GRCh38
NC_000005.9:g.75487251C>G , CM000667.1:g.75487251C>G	GRCh37
NC_000005.8:g.75523007C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000502798.7:c.581-3493C>G MANE Select	ENSP00000423541.2:n.581-3493C>G
ENST00000322285.7:c.581-3493C>G	ENSP00000316983.7:n.581-3493C>G
ENST00000502798.6:c.581-3493C>G	ENSP00000423541.2:n.581-3493C>G
NM_001297716.1:c.581-3493C>G	NP_001284645.1:n.581-3493C>G
NM_014979.3:c.581-3493C>G	NP_055794.3:n.581-3493C>G
XM_011543281.1:c.581-3493C>G	XP_011541583.1:n.581-3493C>G
XM_011543282.1:c.9-18310C>G	XP_011541584.1:n.9-18310C>G
XM_011543281.3:c.581-3493C>G	XP_011541583.1:n.581-3493C>G
XM_011543282.3:c.581-3493C>G	XP_011541584.2:n.581-3493C>G
NM_014979.4:c.581-3493C>G MANE Select	NP_055794.3:n.581-3493C>G
NM_001297716.2:c.581-3493C>G	NP_001284645.1:n.581-3493C>G