Canonical Allele Identifier: CA795441594
Gene: COX7B2 HGNC NCBI

Linked Data

dbSNP Id: rs1307643848
gnomAD v3: 4-46821514-T-C
gnomAD v4: 4-46821514-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46821514T>C , CM000666.2:g.46821514T>C GRCh38
NC_000004.11:g.46823531T>C , CM000666.1:g.46823531T>C GRCh37
NC_000004.10:g.46518288T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000355591.8:c.-50+23446A>G MANE Select ENSP00000347799.3:n.-50+23446A>G
ENST00000355591.7:c.-50+23446A>G ENSP00000347799.3:n.-50+23446A>G
ENST00000396533.5:c.-50+23446A>G ENSP00000379784.1:n.-50+23446A>G
ENST00000505102.1:c.-50+23446A>G ENSP00000423519.1:n.-50+23446A>G
ENST00000543208.5:c.-53+23446A>G ENSP00000437439.1:n.-53+23446A>G
NM_130902.2:c.-50+23446A>G NP_570972.2:n.-50+23446A>G
XM_011513630.1:c.-50+23446A>G XP_011511932.1:n.-50+23446A>G
XM_011513631.1:c.-50+23446A>G XP_011511933.1:n.-50+23446A>G
XM_011513632.1:c.-50+23446A>G XP_011511934.1:n.-50+23446A>G
XM_011513633.1:c.-50+23446A>G XP_011511935.1:n.-50+23446A>G
XM_011513634.1:c.-50+23446A>G XP_011511936.1:n.-50+23446A>G
XM_011513635.1:c.-50+23446A>G XP_011511937.1:n.-50+23446A>G
XM_011513637.1:c.-50+23446A>G XP_011511939.1:n.-50+23446A>G
XM_011513638.1:c.-50+23446A>G XP_011511940.1:n.-50+23446A>G
XM_011513630.2:c.-50+23446A>G XP_011511932.1:n.-50+23446A>G
XM_011513631.2:c.-50+23446A>G XP_011511933.1:n.-50+23446A>G
XM_011513632.2:c.-50+23446A>G XP_011511934.1:n.-50+23446A>G
XM_011513633.2:c.-50+23446A>G XP_011511935.1:n.-50+23446A>G
XM_011513634.2:c.-50+23446A>G XP_011511936.1:n.-50+23446A>G
XM_011513635.2:c.-50+23446A>G XP_011511937.1:n.-50+23446A>G
XM_011513637.2:c.-50+23446A>G XP_011511939.1:n.-50+23446A>G
XM_011513638.2:c.-50+23446A>G XP_011511940.1:n.-50+23446A>G
NM_130902.3:c.-50+23446A>G MANE Select NP_570972.2:n.-50+23446A>G