Canonical Allele Identifier: CA136912049

Gene: C2

Linked Data

• dbSNP Id: rs537513257
• gnomAD v3: 6-31902488-C-T
• gnomAD v4: 6-31902488-C-T
• MyVariant Identifiers: chr6:g.31870265C>T (hg19) ; chr6:g.31902488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31902488C>T , CM000668.2:g.31902488C>T	GRCh38
NC_000006.11:g.31870265C>T , CM000668.1:g.31870265C>T	GRCh37
NC_000006.10:g.31978244C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452323.7:c.73+1349C>T	ENSP00000392322.2:n.73+1349C>T
ENST00000497706.6:c.-64+4546C>T	ENSP00000417482.2:n.-64+4546C>T
ENST00000695637.1:c.-360+4213C>T	ENSP00000512074.1:n.-360+4213C>T
ENST00000452202.5:c.73+1349C>T	ENSP00000406121.1:n.73+1349C>T
ENST00000452323.6:c.73+1349C>T	ENSP00000392322.2:n.73+1349C>T
ENST00000469372.5:c.-64+4546C>T	ENSP00000418923.1:n.-64+4546C>T
ENST00000497706.5:c.-64+4546C>T	ENSP00000417482.1:n.-64+4546C>T
NM_001178063.2:c.73+1349C>T	NP_001171534.1:n.73+1349C>T
NM_001282457.1:c.-64+4546C>T	NP_001269386.1:n.-64+4546C>T
NM_001282457.2:c.-64+4546C>T	NP_001269386.1:n.-64+4546C>T
NM_001178063.3:c.73+1349C>T	NP_001171534.1:n.73+1349C>T