Canonical Allele Identifier: CA2830536372

Gene: SORCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.7715549C>G , CM000666.2:g.7715549C>G	GRCh38
NC_000004.11:g.7717276C>G , CM000666.1:g.7717276C>G	GRCh37
NC_000004.10:g.7768176C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329016.10:c.1736+238C>G	ENSP00000329124.10:n.1736+238C>G
ENST00000507866.6:c.2252+238C>G MANE Select	ENSP00000422185.2:n.2252+238C>G
NM_020777.2:c.2252+238C>G	NP_065828.2:n.2252+238C>G
XM_005247987.3:c.2252+238C>G	XP_005248044.2:n.2252+238C>G
XM_011513514.1:c.2252+238C>G	XP_011511816.1:n.2252+238C>G
XM_011513515.1:c.2252+238C>G	XP_011511817.1:n.2252+238C>G
XM_011513516.1:c.2252+238C>G	XP_011511818.1:n.2252+238C>G
XM_011513517.1:c.1859+238C>G	XP_011511819.1:n.1859+238C>G
XM_011513518.1:c.1256+238C>G	XP_011511820.1:n.1256+238C>G
XM_005247987.4:c.2252+238C>G	XP_005248044.2:n.2252+238C>G
XM_011513514.2:c.2252+238C>G	XP_011511816.1:n.2252+238C>G
XM_011513515.2:c.2252+238C>G	XP_011511817.1:n.2252+238C>G
XM_011513516.2:c.2252+238C>G	XP_011511818.1:n.2252+238C>G
XM_017008481.1:c.2252+238C>G	XP_016863970.1:n.2252+238C>G
NM_020777.3:c.2252+238C>G MANE Select	NP_065828.2:n.2252+238C>G