Canonical Allele Identifier: CA13576679
Gene: ADIPOR2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.1696421C>G
GRCh37 chr12:g.1805587C>G
gnomAD v2:
12:1805587 C / G
gnomAD v3:
12:1696421 C / G
gnomAD v4:
chr12-1696421-C-G
Joint Max Group AF 0.87648762 (EAS)
Genomes Max Group AF 0.87648762 (EAS)
Exomes Max Group AF 0.7200619 (NFE)
dbSNP:
10848554
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.1696421C>G , CM000674.2:g.1696421C>G GRCh38
NC_000012.11:g.1805587C>G , CM000674.1:g.1805587C>G GRCh37
NC_000012.10:g.1675848C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357103.5:c.-87+5230C>G MANE Select ENSP00000349616.4:n.-87+5230C>G
ENST00000357103.4:c.-87+5230C>G ENSP00000349616.4:n.-87+5230C>G
ENST00000537545.1:n.144+7704C>G
ENST00000540974.1:n.51+5208C>G
ENST00000603687.1:n.1421-33G>C
NM_024551.2:c.-87+5230C>G NP_078827.2:n.-87+5230C>G
XM_005253789.1:c.-87+5208C>G XP_005253846.1:n.-87+5208C>G
XM_006719018.1:c.-184+5230C>G XP_006719081.1:n.-184+5230C>G
XM_011521024.1:c.-184+5208C>G XP_011519326.1:n.-184+5208C>G
XM_011521025.1:c.-87+5208C>G XP_011519327.1:n.-87+5208C>G
XM_005253789.2:c.-87+5208C>G XP_005253846.1:n.-87+5208C>G
XM_006719018.2:c.-184+5230C>G XP_006719081.1:n.-184+5230C>G
XM_011521024.2:c.-184+5208C>G XP_011519326.1:n.-184+5208C>G
NM_024551.3:c.-87+5230C>G MANE Select NP_078827.2:n.-87+5230C>G
NM_001375363.1:c.-87+5230C>G NP_001362292.1:n.-87+5230C>G
NM_001375364.1:c.-249+5208C>G NP_001362293.1:n.-249+5208C>G
NM_001375365.1:c.-87+5208C>G NP_001362294.1:n.-87+5208C>G
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