Canonical Allele Identifier: CA11678259
Gene: SORCS2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.7218206T>G
GRCh37 chr4:g.7219933T>G
gnomAD v2:
4:7219933 T / G
gnomAD v3:
4:7218206 T / G
gnomAD v4:
chr4-7218206-T-G
Joint Max Group AF 0.70784878 (EAS)
Genomes Max Group AF 0.70784878 (EAS)
dbSNP:
4234798
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.7218206T>G , CM000666.2:g.7218206T>G GRCh38
NC_000004.11:g.7219933T>G , CM000666.1:g.7219933T>G GRCh37
NC_000004.10:g.7270834T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000507866.6:c.480+25080T>G MANE Select ENSP00000422185.2:n.480+25080T>G
NM_020777.2:c.480+25080T>G NP_065828.2:n.480+25080T>G
XM_005247987.3:c.480+25080T>G XP_005248044.2:n.480+25080T>G
XM_011513514.1:c.480+25080T>G XP_011511816.1:n.480+25080T>G
XM_011513515.1:c.480+25080T>G XP_011511817.1:n.480+25080T>G
XM_011513516.1:c.480+25080T>G XP_011511818.1:n.480+25080T>G
XM_005247987.4:c.480+25080T>G XP_005248044.2:n.480+25080T>G
XM_011513514.2:c.480+25080T>G XP_011511816.1:n.480+25080T>G
XM_011513515.2:c.480+25080T>G XP_011511817.1:n.480+25080T>G
XM_011513516.2:c.480+25080T>G XP_011511818.1:n.480+25080T>G
XM_017008481.1:c.480+25080T>G XP_016863970.1:n.480+25080T>G
NM_020777.3:c.480+25080T>G MANE Select NP_065828.2:n.480+25080T>G
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