Canonical Allele Identifier: CA121234477

Gene: SV2C

Linked Data

• dbSNP Id: rs775546518
• gnomAD v2: 5-75439121-G-C
• gnomAD v3: 5-76143296-G-C
• gnomAD v4: 5-76143296-G-C
• MyVariant Identifiers: chr5:g.75439121G>C (hg19) ; chr5:g.76143296G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.76143296G>C , CM000667.2:g.76143296G>C	GRCh38
NC_000005.9:g.75439121G>C , CM000667.1:g.75439121G>C	GRCh37
NC_000005.8:g.75474877G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502798.7:c.580+10966G>C MANE Select	ENSP00000423541.2:n.580+10966G>C
ENST00000322285.7:c.580+10966G>C	ENSP00000316983.7:n.580+10966G>C
ENST00000502798.6:c.580+10966G>C	ENSP00000423541.2:n.580+10966G>C
NM_001297716.1:c.580+10966G>C	NP_001284645.1:n.580+10966G>C
NM_014979.3:c.580+10966G>C	NP_055794.3:n.580+10966G>C
XM_011543281.1:c.580+10966G>C	XP_011541583.1:n.580+10966G>C
XM_011543282.1:c.8+10966G>C	XP_011541584.1:n.8+10966G>C
XM_011543281.3:c.580+10966G>C	XP_011541583.1:n.580+10966G>C
XM_011543282.3:c.580+10966G>C	XP_011541584.2:n.580+10966G>C
NM_014979.4:c.580+10966G>C MANE Select	NP_055794.3:n.580+10966G>C
NM_001297716.2:c.580+10966G>C	NP_001284645.1:n.580+10966G>C