Canonical Allele Identifier: CA1087491577

Gene: C2

Linked Data

• dbSNP Id: rs1712147955
• gnomAD v3: 6-31904545-C-A
• gnomAD v4: 6-31904545-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31904545C>A , CM000668.2:g.31904545C>A	GRCh38
NC_000006.11:g.31872322C>A , CM000668.1:g.31872322C>A	GRCh37
NC_000006.10:g.31980301C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000452323.7:c.73+3406C>A	ENSP00000392322.2:n.73+3406C>A
ENST00000497706.6:c.-64+6603C>A	ENSP00000417482.2:n.-64+6603C>A
ENST00000695637.1:c.-360+6270C>A	ENSP00000512074.1:n.-360+6270C>A
ENST00000452202.5:c.73+3406C>A	ENSP00000406121.1:n.73+3406C>A
ENST00000452323.6:c.73+3406C>A	ENSP00000392322.2:n.73+3406C>A
ENST00000469372.5:c.-64+6603C>A	ENSP00000418923.1:n.-64+6603C>A
ENST00000497706.5:c.-64+6603C>A	ENSP00000417482.1:n.-64+6603C>A
NM_001178063.2:c.73+3406C>A	NP_001171534.1:n.73+3406C>A
NM_001282457.1:c.-64+6603C>A	NP_001269386.1:n.-64+6603C>A
NM_001282457.2:c.-64+6603C>A	NP_001269386.1:n.-64+6603C>A
NM_001178063.3:c.73+3406C>A	NP_001171534.1:n.73+3406C>A