Canonical Allele Identifier: CA11771289

Gene: SORCS2

Linked Data

• dbSNP Id: rs3846421
• gnomAD v2: 4-7285356-G-A
• gnomAD v3: 4-7283629-G-A
• gnomAD v4: 4-7283629-G-A
• MyVariant Identifiers: chr4:g.7285356G>A (hg19) ; chr4:g.7283629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.7283629G>A , CM000666.2:g.7283629G>A	GRCh38
NC_000004.11:g.7285356G>A , CM000666.1:g.7285356G>A	GRCh37
NC_000004.10:g.7336257G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000507866.6:c.480+90503G>A MANE Select	ENSP00000422185.2:n.480+90503G>A
NM_020777.2:c.480+90503G>A	NP_065828.2:n.480+90503G>A
XM_005247987.3:c.480+90503G>A	XP_005248044.2:n.480+90503G>A
XM_011513514.1:c.480+90503G>A	XP_011511816.1:n.480+90503G>A
XM_011513515.1:c.480+90503G>A	XP_011511817.1:n.480+90503G>A
XM_011513516.1:c.480+90503G>A	XP_011511818.1:n.480+90503G>A
XM_011513517.1:c.87+32669G>A	XP_011511819.1:n.87+32669G>A
XM_005247987.4:c.480+90503G>A	XP_005248044.2:n.480+90503G>A
XM_011513514.2:c.480+90503G>A	XP_011511816.1:n.480+90503G>A
XM_011513515.2:c.480+90503G>A	XP_011511817.1:n.480+90503G>A
XM_011513516.2:c.480+90503G>A	XP_011511818.1:n.480+90503G>A
XM_017008481.1:c.480+90503G>A	XP_016863970.1:n.480+90503G>A
NM_020777.3:c.480+90503G>A MANE Select	NP_065828.2:n.480+90503G>A