Canonical Allele Identifier: CA1619357971
Gene: C2 HGNC NCBI

Linked Data

dbSNP Id: rs1767589064

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31904518T>G , CM000668.2:g.31904518T>G GRCh38
NC_000006.11:g.31872295T>G , CM000668.1:g.31872295T>G GRCh37
NC_000006.10:g.31980274T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000452323.7:c.73+3379T>G ENSP00000392322.2:n.73+3379T>G
ENST00000497706.6:c.-64+6576T>G ENSP00000417482.2:n.-64+6576T>G
ENST00000695637.1:c.-360+6243T>G ENSP00000512074.1:n.-360+6243T>G
ENST00000452202.5:c.73+3379T>G ENSP00000406121.1:n.73+3379T>G
ENST00000452323.6:c.73+3379T>G ENSP00000392322.2:n.73+3379T>G
ENST00000469372.5:c.-64+6576T>G ENSP00000418923.1:n.-64+6576T>G
ENST00000497706.5:c.-64+6576T>G ENSP00000417482.1:n.-64+6576T>G
NM_001178063.2:c.73+3379T>G NP_001171534.1:n.73+3379T>G
NM_001282457.1:c.-64+6576T>G NP_001269386.1:n.-64+6576T>G
NM_001282457.2:c.-64+6576T>G NP_001269386.1:n.-64+6576T>G
NM_001178063.3:c.73+3379T>G NP_001171534.1:n.73+3379T>G