Canonical Allele Identifier: CA798425761
Gene: SORCS2 HGNC NCBI

Linked Data

dbSNP Id: rs1236091276
gnomAD v3: 4-7478537-GT-G
gnomAD v4: 4-7478537-GT-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.7478539del , CM000666.2:g.7478539del GRCh38
NC_000004.11:g.7480266del , CM000666.1:g.7480266del GRCh37
NC_000004.10:g.7531166del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329016.10:c.33-52991del ENSP00000329124.10:n.33-52991del
ENST00000507866.6:c.549-52991del MANE Select ENSP00000422185.2:n.549-52991del
ENST00000511199.1:n.164-52991del
NM_020777.2:c.549-52991del NP_065828.2:n.549-52991del
XM_005247987.3:c.549-52991del XP_005248044.2:n.549-52991del
XM_011513514.1:c.549-52991del XP_011511816.1:n.549-52991del
XM_011513515.1:c.549-52991del XP_011511817.1:n.549-52991del
XM_011513516.1:c.549-52991del XP_011511818.1:n.549-52991del
XM_011513517.1:c.156-52991del XP_011511819.1:n.156-52991del
XM_005247987.4:c.549-52991del XP_005248044.2:n.549-52991del
XM_011513514.2:c.549-52991del XP_011511816.1:n.549-52991del
XM_011513515.2:c.549-52991del XP_011511817.1:n.549-52991del
XM_011513516.2:c.549-52991del XP_011511818.1:n.549-52991del
XM_017008481.1:c.549-52991del XP_016863970.1:n.549-52991del
NM_020777.3:c.549-52991del MANE Select NP_065828.2:n.549-52991del