Canonical Allele Identifier: CA1087490899

Gene: C2

Linked Data

• gnomAD v3: 6-31902562-ACC-A
• gnomAD v4: 6-31902562-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31902564_31902565del , CM000668.2:g.31902564_31902565del	GRCh38
NC_000006.11:g.31870341_31870342del , CM000668.1:g.31870341_31870342del	GRCh37
NC_000006.10:g.31978320_31978321del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452323.7:c.73+1425_73+1426del	ENSP00000392322.2:n.73+1425_73+1426del
ENST00000497706.6:c.-64+4622_-64+4623del	ENSP00000417482.2:n.-64+4622_-64+4623del
ENST00000695637.1:c.-360+4289_-360+4290del	ENSP00000512074.1:n.-360+4289_-360+4290del
ENST00000452202.5:c.73+1425_73+1426del	ENSP00000406121.1:n.73+1425_73+1426del
ENST00000452323.6:c.73+1425_73+1426del	ENSP00000392322.2:n.73+1425_73+1426del
ENST00000469372.5:c.-64+4622_-64+4623del	ENSP00000418923.1:n.-64+4622_-64+4623del
ENST00000497706.5:c.-64+4622_-64+4623del	ENSP00000417482.1:n.-64+4622_-64+4623del
NM_001178063.2:c.73+1425_73+1426del	NP_001171534.1:n.73+1425_73+1426del
NM_001282457.1:c.-64+4622_-64+4623del	NP_001269386.1:n.-64+4622_-64+4623del
NM_001282457.2:c.-64+4622_-64+4623del	NP_001269386.1:n.-64+4622_-64+4623del
NM_001178063.3:c.73+1425_73+1426del	NP_001171534.1:n.73+1425_73+1426del