Canonical Allele Identifier: CA798425921

Gene: SORCS2

Linked Data

• dbSNP Id: rs1229341740
• gnomAD v3: 4-7478771-C-CA
• gnomAD v4: 4-7478771-C-CA
• MyVariant Identifiers: chr4:g.7480498_7480499insA (hg19) ; chr4:g.7478771_7478772insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.7478772dup , CM000666.2:g.7478772dup	GRCh38
NC_000004.11:g.7480499dup , CM000666.1:g.7480499dup	GRCh37
NC_000004.10:g.7531399dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329016.10:c.33-52758dup	ENSP00000329124.10:n.33-52758dup
ENST00000507866.6:c.549-52758dup MANE Select	ENSP00000422185.2:n.549-52758dup
ENST00000511199.1:n.164-52758dup
NM_020777.2:c.549-52758dup	NP_065828.2:n.549-52758dup
XM_005247987.3:c.549-52758dup	XP_005248044.2:n.549-52758dup
XM_011513514.1:c.549-52758dup	XP_011511816.1:n.549-52758dup
XM_011513515.1:c.549-52758dup	XP_011511817.1:n.549-52758dup
XM_011513516.1:c.549-52758dup	XP_011511818.1:n.549-52758dup
XM_011513517.1:c.156-52758dup	XP_011511819.1:n.156-52758dup
XM_005247987.4:c.549-52758dup	XP_005248044.2:n.549-52758dup
XM_011513514.2:c.549-52758dup	XP_011511816.1:n.549-52758dup
XM_011513515.2:c.549-52758dup	XP_011511817.1:n.549-52758dup
XM_011513516.2:c.549-52758dup	XP_011511818.1:n.549-52758dup
XM_017008481.1:c.549-52758dup	XP_016863970.1:n.549-52758dup
NM_020777.3:c.549-52758dup MANE Select	NP_065828.2:n.549-52758dup