Canonical Allele Identifier: CA91956738

Gene: SORCS2

Linked Data

• dbSNP Id: rs537613067
• gnomAD v2: 4-7480282-A-T
• gnomAD v3: 4-7478555-A-T
• gnomAD v4: 4-7478555-A-T
• MyVariant Identifiers: chr4:g.7480282A>T (hg19) ; chr4:g.7478555A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.7478555A>T , CM000666.2:g.7478555A>T	GRCh38
NC_000004.11:g.7480282A>T , CM000666.1:g.7480282A>T	GRCh37
NC_000004.10:g.7531182A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329016.10:c.33-52975A>T	ENSP00000329124.10:n.33-52975A>T
ENST00000507866.6:c.549-52975A>T MANE Select	ENSP00000422185.2:n.549-52975A>T
ENST00000511199.1:n.164-52975A>T
NM_020777.2:c.549-52975A>T	NP_065828.2:n.549-52975A>T
XM_005247987.3:c.549-52975A>T	XP_005248044.2:n.549-52975A>T
XM_011513514.1:c.549-52975A>T	XP_011511816.1:n.549-52975A>T
XM_011513515.1:c.549-52975A>T	XP_011511817.1:n.549-52975A>T
XM_011513516.1:c.549-52975A>T	XP_011511818.1:n.549-52975A>T
XM_011513517.1:c.156-52975A>T	XP_011511819.1:n.156-52975A>T
XM_005247987.4:c.549-52975A>T	XP_005248044.2:n.549-52975A>T
XM_011513514.2:c.549-52975A>T	XP_011511816.1:n.549-52975A>T
XM_011513515.2:c.549-52975A>T	XP_011511817.1:n.549-52975A>T
XM_011513516.2:c.549-52975A>T	XP_011511818.1:n.549-52975A>T
XM_017008481.1:c.549-52975A>T	XP_016863970.1:n.549-52975A>T
NM_020777.3:c.549-52975A>T MANE Select	NP_065828.2:n.549-52975A>T