Canonical Allele Identifier: CA91957480

Gene: SORCS2

Linked Data

• dbSNP Id: rs11939661
• gnomAD v2: 4-7480846-A-G
• gnomAD v3: 4-7479119-A-G
• gnomAD v4: 4-7479119-A-G
• MyVariant Identifiers: chr4:g.7480846A>G (hg19) ; chr4:g.7479119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.7479119A>G , CM000666.2:g.7479119A>G	GRCh38
NC_000004.11:g.7480846A>G , CM000666.1:g.7480846A>G	GRCh37
NC_000004.10:g.7531746A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329016.10:c.33-52411A>G	ENSP00000329124.10:n.33-52411A>G
ENST00000507866.6:c.549-52411A>G MANE Select	ENSP00000422185.2:n.549-52411A>G
ENST00000511199.1:n.164-52411A>G
NM_020777.2:c.549-52411A>G	NP_065828.2:n.549-52411A>G
XM_005247987.3:c.549-52411A>G	XP_005248044.2:n.549-52411A>G
XM_011513514.1:c.549-52411A>G	XP_011511816.1:n.549-52411A>G
XM_011513515.1:c.549-52411A>G	XP_011511817.1:n.549-52411A>G
XM_011513516.1:c.549-52411A>G	XP_011511818.1:n.549-52411A>G
XM_011513517.1:c.156-52411A>G	XP_011511819.1:n.156-52411A>G
XM_005247987.4:c.549-52411A>G	XP_005248044.2:n.549-52411A>G
XM_011513514.2:c.549-52411A>G	XP_011511816.1:n.549-52411A>G
XM_011513515.2:c.549-52411A>G	XP_011511817.1:n.549-52411A>G
XM_011513516.2:c.549-52411A>G	XP_011511818.1:n.549-52411A>G
XM_017008481.1:c.549-52411A>G	XP_016863970.1:n.549-52411A>G
NM_020777.3:c.549-52411A>G MANE Select	NP_065828.2:n.549-52411A>G