Canonical Allele Identifier: CA549470378

Gene: SORCS2

Linked Data

• dbSNP Id: rs1449794330
• gnomAD v2: 4-7480444-TGA-T
• gnomAD v3: 4-7478717-TGA-T
• gnomAD v4: 4-7478717-TGA-T
• MyVariant Identifiers: chr4:g.7480445_7480446del (hg19) ; chr4:g.7478718_7478719del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.7478721_7478722del , CM000666.2:g.7478721_7478722del	GRCh38
NC_000004.11:g.7480448_7480449del , CM000666.1:g.7480448_7480449del	GRCh37
NC_000004.10:g.7531348_7531349del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000329016.10:c.33-52809_33-52808del	ENSP00000329124.10:n.33-52809_33-52808del...
ENST00000507866.6:c.549-52809_549-52808del MANE Select	ENSP00000422185.2:n.549-52809_549-52808de...
ENST00000511199.1:n.164-52809_164-52808del
NM_020777.2:c.549-52809_549-52808del	NP_065828.2:n.549-52809_549-52808del
XM_005247987.3:c.549-52809_549-52808del	XP_005248044.2:n.549-52809_549-52808del
XM_011513514.1:c.549-52809_549-52808del	XP_011511816.1:n.549-52809_549-52808del
XM_011513515.1:c.549-52809_549-52808del	XP_011511817.1:n.549-52809_549-52808del
XM_011513516.1:c.549-52809_549-52808del	XP_011511818.1:n.549-52809_549-52808del
XM_011513517.1:c.156-52809_156-52808del	XP_011511819.1:n.156-52809_156-52808del
XM_005247987.4:c.549-52809_549-52808del	XP_005248044.2:n.549-52809_549-52808del
XM_011513514.2:c.549-52809_549-52808del	XP_011511816.1:n.549-52809_549-52808del
XM_011513515.2:c.549-52809_549-52808del	XP_011511817.1:n.549-52809_549-52808del
XM_011513516.2:c.549-52809_549-52808del	XP_011511818.1:n.549-52809_549-52808del
XM_017008481.1:c.549-52809_549-52808del	XP_016863970.1:n.549-52809_549-52808del
NM_020777.3:c.549-52809_549-52808del MANE Select	NP_065828.2:n.549-52809_549-52808del