Canonical Allele Identifier: CA823920887
Gene: C2 HGNC NCBI

Linked Data

dbSNP Id: rs1474962469
gnomAD v3: 6-31902474-A-G
gnomAD v4: 6-31902474-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31902474A>G , CM000668.2:g.31902474A>G GRCh38
NC_000006.11:g.31870251A>G , CM000668.1:g.31870251A>G GRCh37
NC_000006.10:g.31978230A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000452323.7:c.73+1335A>G ENSP00000392322.2:n.73+1335A>G
ENST00000497706.6:c.-64+4532A>G ENSP00000417482.2:n.-64+4532A>G
ENST00000695637.1:c.-360+4199A>G ENSP00000512074.1:n.-360+4199A>G
ENST00000452202.5:c.73+1335A>G ENSP00000406121.1:n.73+1335A>G
ENST00000452323.6:c.73+1335A>G ENSP00000392322.2:n.73+1335A>G
ENST00000469372.5:c.-64+4532A>G ENSP00000418923.1:n.-64+4532A>G
ENST00000497706.5:c.-64+4532A>G ENSP00000417482.1:n.-64+4532A>G
NM_001178063.2:c.73+1335A>G NP_001171534.1:n.73+1335A>G
NM_001282457.1:c.-64+4532A>G NP_001269386.1:n.-64+4532A>G
NM_001282457.2:c.-64+4532A>G NP_001269386.1:n.-64+4532A>G
NM_001178063.3:c.73+1335A>G NP_001171534.1:n.73+1335A>G