Canonical Allele Identifier: CA11972555
Gene: SV2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76206585G>C , CM000667.2:g.76206585G>C GRCh38
NC_000005.9:g.75502410G>C , CM000667.1:g.75502410G>C GRCh37
NC_000005.8:g.75538166G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502798.7:c.762-3151G>C MANE Select ENSP00000423541.2:n.762-3151G>C
ENST00000322285.7:c.762-3151G>C ENSP00000316983.7:n.762-3151G>C
ENST00000502798.6:c.762-3151G>C ENSP00000423541.2:n.762-3151G>C
NM_001297716.1:c.762-3151G>C NP_001284645.1:n.762-3151G>C
NM_014979.3:c.762-3151G>C NP_055794.3:n.762-3151G>C
XM_011543281.1:c.762-3151G>C XP_011541583.1:n.762-3151G>C
XM_011543282.1:c.9-3151G>C XP_011541584.1:n.9-3151G>C
XM_011543281.3:c.762-3151G>C XP_011541583.1:n.762-3151G>C
XM_011543282.3:c.762-3151G>C XP_011541584.2:n.762-3151G>C
NM_014979.4:c.762-3151G>C MANE Select NP_055794.3:n.762-3151G>C
NM_001297716.2:c.762-3151G>C NP_001284645.1:n.762-3151G>C