Canonical Allele Identifier: CA1077640059

Gene: SV2C

Linked Data

• dbSNP Id: rs1749321315
• gnomAD v3: 5-76143374-C-T
• gnomAD v4: 5-76143374-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.76143374C>T , CM000667.2:g.76143374C>T	GRCh38
NC_000005.9:g.75439199C>T , CM000667.1:g.75439199C>T	GRCh37
NC_000005.8:g.75474955C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502798.7:c.580+11044C>T MANE Select	ENSP00000423541.2:n.580+11044C>T
ENST00000322285.7:c.580+11044C>T	ENSP00000316983.7:n.580+11044C>T
ENST00000502798.6:c.580+11044C>T	ENSP00000423541.2:n.580+11044C>T
NM_001297716.1:c.580+11044C>T	NP_001284645.1:n.580+11044C>T
NM_014979.3:c.580+11044C>T	NP_055794.3:n.580+11044C>T
XM_011543281.1:c.580+11044C>T	XP_011541583.1:n.580+11044C>T
XM_011543282.1:c.8+11044C>T	XP_011541584.1:n.8+11044C>T
XM_011543281.3:c.580+11044C>T	XP_011541583.1:n.580+11044C>T
XM_011543282.3:c.580+11044C>T	XP_011541584.2:n.580+11044C>T
NM_014979.4:c.580+11044C>T MANE Select	NP_055794.3:n.580+11044C>T
NM_001297716.2:c.580+11044C>T	NP_001284645.1:n.580+11044C>T