Canonical Allele Identifier: CA121234563

Gene: SV2C

Linked Data

• dbSNP Id: rs6453204
• gnomAD v2: 5-75439200-A-G
• gnomAD v3: 5-76143375-A-G
• gnomAD v4: 5-76143375-A-G
• MyVariant Identifiers: chr5:g.75439200A>G (hg19) ; chr5:g.76143375A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.76143375A>G , CM000667.2:g.76143375A>G	GRCh38
NC_000005.9:g.75439200A>G , CM000667.1:g.75439200A>G	GRCh37
NC_000005.8:g.75474956A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000502798.7:c.580+11045A>G MANE Select	ENSP00000423541.2:n.580+11045A>G
ENST00000322285.7:c.580+11045A>G	ENSP00000316983.7:n.580+11045A>G
ENST00000502798.6:c.580+11045A>G	ENSP00000423541.2:n.580+11045A>G
NM_001297716.1:c.580+11045A>G	NP_001284645.1:n.580+11045A>G
NM_014979.3:c.580+11045A>G	NP_055794.3:n.580+11045A>G
XM_011543281.1:c.580+11045A>G	XP_011541583.1:n.580+11045A>G
XM_011543282.1:c.8+11045A>G	XP_011541584.1:n.8+11045A>G
XM_011543281.3:c.580+11045A>G	XP_011541583.1:n.580+11045A>G
XM_011543282.3:c.580+11045A>G	XP_011541584.2:n.580+11045A>G
NM_014979.4:c.580+11045A>G MANE Select	NP_055794.3:n.580+11045A>G
NM_001297716.2:c.580+11045A>G	NP_001284645.1:n.580+11045A>G