Canonical Allele Identifier: CA16173645
Gene: SORCS2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.7532876A>G
GRCh37 chr4:g.7534603A>G
gnomAD v2:
4:7534603 A / G
gnomAD v3:
4:7532876 A / G
gnomAD v4:
chr4-7532876-A-G
Joint Max Group AF 0.20319265 (AFR)
Genomes Max Group AF 0.20319265 (AFR)
dbSNP:
6812745
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.7532876A>G , CM000666.2:g.7532876A>G GRCh38
NC_000004.11:g.7534603A>G , CM000666.1:g.7534603A>G GRCh37
NC_000004.10:g.7585503A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329016.10:c.132+1247A>G ENSP00000329124.10:n.132+1247A>G
ENST00000507866.6:c.648+1247A>G MANE Select ENSP00000422185.2:n.648+1247A>G
ENST00000511199.1:n.263+1247A>G
NM_020777.2:c.648+1247A>G NP_065828.2:n.648+1247A>G
XM_005247987.3:c.648+1247A>G XP_005248044.2:n.648+1247A>G
XM_011513514.1:c.648+1247A>G XP_011511816.1:n.648+1247A>G
XM_011513515.1:c.648+1247A>G XP_011511817.1:n.648+1247A>G
XM_011513516.1:c.648+1247A>G XP_011511818.1:n.648+1247A>G
XM_011513517.1:c.255+1247A>G XP_011511819.1:n.255+1247A>G
XM_005247987.4:c.648+1247A>G XP_005248044.2:n.648+1247A>G
XM_011513514.2:c.648+1247A>G XP_011511816.1:n.648+1247A>G
XM_011513515.2:c.648+1247A>G XP_011511817.1:n.648+1247A>G
XM_011513516.2:c.648+1247A>G XP_011511818.1:n.648+1247A>G
XM_017008481.1:c.648+1247A>G XP_016863970.1:n.648+1247A>G
NM_020777.3:c.648+1247A>G MANE Select NP_065828.2:n.648+1247A>G
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