Canonical Allele Identifier: CA823920874
Gene: C2 HGNC NCBI

Linked Data

dbSNP Id: rs1316856722

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31902449C>T , CM000668.2:g.31902449C>T GRCh38
NC_000006.11:g.31870226C>T , CM000668.1:g.31870226C>T GRCh37
NC_000006.10:g.31978205C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000452323.7:c.73+1310C>T ENSP00000392322.2:n.73+1310C>T
ENST00000497706.6:c.-64+4507C>T ENSP00000417482.2:n.-64+4507C>T
ENST00000695637.1:c.-360+4174C>T ENSP00000512074.1:n.-360+4174C>T
ENST00000452202.5:c.73+1310C>T ENSP00000406121.1:n.73+1310C>T
ENST00000452323.6:c.73+1310C>T ENSP00000392322.2:n.73+1310C>T
ENST00000469372.5:c.-64+4507C>T ENSP00000418923.1:n.-64+4507C>T
ENST00000497706.5:c.-64+4507C>T ENSP00000417482.1:n.-64+4507C>T
NM_001178063.2:c.73+1310C>T NP_001171534.1:n.73+1310C>T
NM_001282457.1:c.-64+4507C>T NP_001269386.1:n.-64+4507C>T
NM_001282457.2:c.-64+4507C>T NP_001269386.1:n.-64+4507C>T
NM_001178063.3:c.73+1310C>T NP_001171534.1:n.73+1310C>T