Canonical Allele Identifier: CA798425765

Gene: SORCS2

Linked Data

• dbSNP Id: rs1231547526
• gnomAD v3: 4-7478543-C-T
• gnomAD v4: 4-7478543-C-T
• MyVariant Identifiers: chr4:g.7480270C>T (hg19) ; chr4:g.7478543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.7478543C>T , CM000666.2:g.7478543C>T	GRCh38
NC_000004.11:g.7480270C>T , CM000666.1:g.7480270C>T	GRCh37
NC_000004.10:g.7531170C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329016.10:c.33-52987C>T	ENSP00000329124.10:n.33-52987C>T
ENST00000507866.6:c.549-52987C>T MANE Select	ENSP00000422185.2:n.549-52987C>T
ENST00000511199.1:n.164-52987C>T
NM_020777.2:c.549-52987C>T	NP_065828.2:n.549-52987C>T
XM_005247987.3:c.549-52987C>T	XP_005248044.2:n.549-52987C>T
XM_011513514.1:c.549-52987C>T	XP_011511816.1:n.549-52987C>T
XM_011513515.1:c.549-52987C>T	XP_011511817.1:n.549-52987C>T
XM_011513516.1:c.549-52987C>T	XP_011511818.1:n.549-52987C>T
XM_011513517.1:c.156-52987C>T	XP_011511819.1:n.156-52987C>T
XM_005247987.4:c.549-52987C>T	XP_005248044.2:n.549-52987C>T
XM_011513514.2:c.549-52987C>T	XP_011511816.1:n.549-52987C>T
XM_011513515.2:c.549-52987C>T	XP_011511817.1:n.549-52987C>T
XM_011513516.2:c.549-52987C>T	XP_011511818.1:n.549-52987C>T
XM_017008481.1:c.549-52987C>T	XP_016863970.1:n.549-52987C>T
NM_020777.3:c.549-52987C>T MANE Select	NP_065828.2:n.549-52987C>T