Canonical Allele Identifier: CA2581564066

Gene: C2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31902549G>C , CM000668.2:g.31902549G>C	GRCh38
NC_000006.11:g.31870326G>C , CM000668.1:g.31870326G>C	GRCh37
NC_000006.10:g.31978305G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452323.7:c.73+1410G>C	ENSP00000392322.2:n.73+1410G>C
ENST00000497706.6:c.-64+4607G>C	ENSP00000417482.2:n.-64+4607G>C
ENST00000695637.1:c.-360+4274G>C	ENSP00000512074.1:n.-360+4274G>C
ENST00000452202.5:c.73+1410G>C	ENSP00000406121.1:n.73+1410G>C
ENST00000452323.6:c.73+1410G>C	ENSP00000392322.2:n.73+1410G>C
ENST00000469372.5:c.-64+4607G>C	ENSP00000418923.1:n.-64+4607G>C
ENST00000497706.5:c.-64+4607G>C	ENSP00000417482.1:n.-64+4607G>C
NM_001178063.2:c.73+1410G>C	NP_001171534.1:n.73+1410G>C
NM_001282457.1:c.-64+4607G>C	NP_001269386.1:n.-64+4607G>C
NM_001282457.2:c.-64+4607G>C	NP_001269386.1:n.-64+4607G>C
NM_001178063.3:c.73+1410G>C	NP_001171534.1:n.73+1410G>C