Canonical Allele Identifier: CA798196109

Gene: SORCS2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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