Canonical Allele Identifier: CA478097014
Gene: ADIPOR2 HGNC NCBI

Linked Data

dbSNP Id: rs1458131569
gnomAD v2: 12-1889744-T-C
gnomAD v4: 12-1780578-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.1780578T>C , CM000674.2:g.1780578T>C GRCh38
NC_000012.11:g.1889744T>C , CM000674.1:g.1889744T>C GRCh37
NC_000012.10:g.1760005T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357103.5:c.591T>C MANE Select ENSP00000349616.4:p.Phe197=
ENST00000357103.4:c.591T>C ENSP00000349616.4:p.Phe197=
ENST00000537190.1:n.431T>C
NM_024551.2:c.591T>C NP_078827.2:p.Phe197=
XM_005253789.1:c.591T>C XP_005253846.1:p.Phe197=
XM_006719018.1:c.591T>C XP_006719081.1:p.Phe197=
XM_011521024.1:c.591T>C XP_011519326.1:p.Phe197=
XM_011521025.1:c.463+2553T>C XP_011519327.1:n.463+2553T>C
XM_005253789.2:c.591T>C XP_005253846.1:p.Phe197=
XM_006719018.2:c.591T>C XP_006719081.1:p.Phe197=
XM_011521024.2:c.591T>C XP_011519326.1:p.Phe197=
NM_024551.3:c.591T>C MANE Select NP_078827.2:p.Phe197=
NM_001375363.1:c.591T>C NP_001362292.1:p.Phe197=
NM_001375364.1:c.591T>C NP_001362293.1:p.Phe197=
NM_001375365.1:c.591T>C NP_001362294.1:p.Phe197=