Canonical Allele Identifier: CA11771340
Gene: SORCS2 HGNC NCBI

Linked Data

dbSNP Id: rs7694661
gnomAD v2: 4-7423751-C-A
gnomAD v3: 4-7422024-C-A
gnomAD v4: 4-7422024-C-A
MyVariant Identifiers: chr4:g.7423751C>A (hg19) chr4:g.7422024C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.7422024C>A , CM000666.2:g.7422024C>A GRCh38
NC_000004.11:g.7423751C>A , CM000666.1:g.7423751C>A GRCh37
NC_000004.10:g.7474652C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000329016.10:c.32+25669C>A ENSP00000329124.10:n.32+25669C>A
ENST00000507866.6:c.548+25669C>A MANE Select ENSP00000422185.2:n.548+25669C>A
ENST00000511199.1:n.163+25669C>A
NM_020777.2:c.548+25669C>A NP_065828.2:n.548+25669C>A
XM_005247987.3:c.548+25669C>A XP_005248044.2:n.548+25669C>A
XM_011513514.1:c.548+25669C>A XP_011511816.1:n.548+25669C>A
XM_011513515.1:c.548+25669C>A XP_011511817.1:n.548+25669C>A
XM_011513516.1:c.548+25669C>A XP_011511818.1:n.548+25669C>A
XM_011513517.1:c.155+25669C>A XP_011511819.1:n.155+25669C>A
XM_005247987.4:c.548+25669C>A XP_005248044.2:n.548+25669C>A
XM_011513514.2:c.548+25669C>A XP_011511816.1:n.548+25669C>A
XM_011513515.2:c.548+25669C>A XP_011511817.1:n.548+25669C>A
XM_011513516.2:c.548+25669C>A XP_011511818.1:n.548+25669C>A
XM_017008481.1:c.548+25669C>A XP_016863970.1:n.548+25669C>A
NM_020777.3:c.548+25669C>A MANE Select NP_065828.2:n.548+25669C>A
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