Canonical Allele Identifier: CA560603730

Gene: SV2C

Linked Data

• dbSNP Id: rs1343948489
• gnomAD v2: 5-75439176-C-T
• MyVariant Identifiers: chr5:g.75439176C>T (hg19) ; chr5:g.76143351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.76143351C>T , CM000667.2:g.76143351C>T	GRCh38
NC_000005.9:g.75439176C>T , CM000667.1:g.75439176C>T	GRCh37
NC_000005.8:g.75474932C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502798.7:c.580+11021C>T MANE Select	ENSP00000423541.2:n.580+11021C>T
ENST00000322285.7:c.580+11021C>T	ENSP00000316983.7:n.580+11021C>T
ENST00000502798.6:c.580+11021C>T	ENSP00000423541.2:n.580+11021C>T
NM_001297716.1:c.580+11021C>T	NP_001284645.1:n.580+11021C>T
NM_014979.3:c.580+11021C>T	NP_055794.3:n.580+11021C>T
XM_011543281.1:c.580+11021C>T	XP_011541583.1:n.580+11021C>T
XM_011543282.1:c.8+11021C>T	XP_011541584.1:n.8+11021C>T
XM_011543281.3:c.580+11021C>T	XP_011541583.1:n.580+11021C>T
XM_011543282.3:c.580+11021C>T	XP_011541584.2:n.580+11021C>T
NM_014979.4:c.580+11021C>T MANE Select	NP_055794.3:n.580+11021C>T
NM_001297716.2:c.580+11021C>T	NP_001284645.1:n.580+11021C>T