Canonical Allele Identifier: CA1061914789

Gene: COX7B2

Linked Data

• dbSNP Id: rs1714298660
• gnomAD v3: 4-46821638-A-C
• gnomAD v4: 4-46821638-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46821638A>C , CM000666.2:g.46821638A>C	GRCh38
NC_000004.11:g.46823655A>C , CM000666.1:g.46823655A>C	GRCh37
NC_000004.10:g.46518412A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355591.8:c.-50+23322T>G MANE Select	ENSP00000347799.3:n.-50+23322T>G
ENST00000355591.7:c.-50+23322T>G	ENSP00000347799.3:n.-50+23322T>G
ENST00000396533.5:c.-50+23322T>G	ENSP00000379784.1:n.-50+23322T>G
ENST00000505102.1:c.-50+23322T>G	ENSP00000423519.1:n.-50+23322T>G
ENST00000543208.5:c.-53+23322T>G	ENSP00000437439.1:n.-53+23322T>G
NM_130902.2:c.-50+23322T>G	NP_570972.2:n.-50+23322T>G
XM_011513630.1:c.-50+23322T>G	XP_011511932.1:n.-50+23322T>G
XM_011513631.1:c.-50+23322T>G	XP_011511933.1:n.-50+23322T>G
XM_011513632.1:c.-50+23322T>G	XP_011511934.1:n.-50+23322T>G
XM_011513633.1:c.-50+23322T>G	XP_011511935.1:n.-50+23322T>G
XM_011513634.1:c.-50+23322T>G	XP_011511936.1:n.-50+23322T>G
XM_011513635.1:c.-50+23322T>G	XP_011511937.1:n.-50+23322T>G
XM_011513637.1:c.-50+23322T>G	XP_011511939.1:n.-50+23322T>G
XM_011513638.1:c.-50+23322T>G	XP_011511940.1:n.-50+23322T>G
XM_011513630.2:c.-50+23322T>G	XP_011511932.1:n.-50+23322T>G
XM_011513631.2:c.-50+23322T>G	XP_011511933.1:n.-50+23322T>G
XM_011513632.2:c.-50+23322T>G	XP_011511934.1:n.-50+23322T>G
XM_011513633.2:c.-50+23322T>G	XP_011511935.1:n.-50+23322T>G
XM_011513634.2:c.-50+23322T>G	XP_011511936.1:n.-50+23322T>G
XM_011513635.2:c.-50+23322T>G	XP_011511937.1:n.-50+23322T>G
XM_011513637.2:c.-50+23322T>G	XP_011511939.1:n.-50+23322T>G
XM_011513638.2:c.-50+23322T>G	XP_011511940.1:n.-50+23322T>G
NM_130902.3:c.-50+23322T>G MANE Select	NP_570972.2:n.-50+23322T>G