Canonical Allele Identifier: CA551287810
Gene: COX7B2 HGNC NCBI

Linked Data

dbSNP Id: rs1482016074
gnomAD v2: 4-46823522-G-C
gnomAD v3: 4-46821505-G-C
gnomAD v4: 4-46821505-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46821505G>C , CM000666.2:g.46821505G>C GRCh38
NC_000004.11:g.46823522G>C , CM000666.1:g.46823522G>C GRCh37
NC_000004.10:g.46518279G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000355591.8:c.-50+23455C>G MANE Select ENSP00000347799.3:n.-50+23455C>G
ENST00000355591.7:c.-50+23455C>G ENSP00000347799.3:n.-50+23455C>G
ENST00000396533.5:c.-50+23455C>G ENSP00000379784.1:n.-50+23455C>G
ENST00000505102.1:c.-50+23455C>G ENSP00000423519.1:n.-50+23455C>G
ENST00000543208.5:c.-53+23455C>G ENSP00000437439.1:n.-53+23455C>G
NM_130902.2:c.-50+23455C>G NP_570972.2:n.-50+23455C>G
XM_011513630.1:c.-50+23455C>G XP_011511932.1:n.-50+23455C>G
XM_011513631.1:c.-50+23455C>G XP_011511933.1:n.-50+23455C>G
XM_011513632.1:c.-50+23455C>G XP_011511934.1:n.-50+23455C>G
XM_011513633.1:c.-50+23455C>G XP_011511935.1:n.-50+23455C>G
XM_011513634.1:c.-50+23455C>G XP_011511936.1:n.-50+23455C>G
XM_011513635.1:c.-50+23455C>G XP_011511937.1:n.-50+23455C>G
XM_011513637.1:c.-50+23455C>G XP_011511939.1:n.-50+23455C>G
XM_011513638.1:c.-50+23455C>G XP_011511940.1:n.-50+23455C>G
XM_011513630.2:c.-50+23455C>G XP_011511932.1:n.-50+23455C>G
XM_011513631.2:c.-50+23455C>G XP_011511933.1:n.-50+23455C>G
XM_011513632.2:c.-50+23455C>G XP_011511934.1:n.-50+23455C>G
XM_011513633.2:c.-50+23455C>G XP_011511935.1:n.-50+23455C>G
XM_011513634.2:c.-50+23455C>G XP_011511936.1:n.-50+23455C>G
XM_011513635.2:c.-50+23455C>G XP_011511937.1:n.-50+23455C>G
XM_011513637.2:c.-50+23455C>G XP_011511939.1:n.-50+23455C>G
XM_011513638.2:c.-50+23455C>G XP_011511940.1:n.-50+23455C>G
NM_130902.3:c.-50+23455C>G MANE Select NP_570972.2:n.-50+23455C>G