Canonical Allele Identifier: CA1619369935

Gene: C2

Linked Data

• dbSNP Id: rs1770176304

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933973_31933976del , CM000668.2:g.31933973_31933976del	GRCh38
NC_000006.11:g.31901750_31901753del , CM000668.1:g.31901750_31901753del	GRCh37
NC_000006.10:g.32009729_32009732del	NCBI36
NG_011730.1:g.11485_11488del , LRG_26:g.11485_11488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.529+8_529+11del	ENSP00000391354.3:n.529+8_529+11del
ENST00000452323.7:c.346+8_346+11del	ENSP00000392322.2:n.346+8_346+11del
ENST00000468407.2:c.715+8_715+11del	ENSP00000512075.1:n.715+8_715+11del
ENST00000497706.6:c.210+8_210+11del	ENSP00000417482.2:n.210+8_210+11del
ENST00000695637.1:c.310+8_310+11del	ENSP00000512074.1:n.310+8_310+11del
ENST00000695638.1:c.715+8_715+11del	ENSP00000512076.1:n.715+8_715+11del
ENST00000695644.1:c.319+8_319+11del	ENSP00000512079.1:n.319+8_319+11del
ENST00000299367.10:c.715+8_715+11del MANE Select	ENSP00000299367.5:n.715+8_715+11del
ENST00000299367.9:c.715+8_715+11del	ENSP00000299367.5:n.715+8_715+11del
ENST00000383177.7:c.309+8_309+11del
ENST00000411571.6:c.210+8_210+11del	ENSP00000388727.2:n.210+8_210+11del
ENST00000418949.6:c.715+8_715+11del	ENSP00000406190.2:n.715+8_715+11del
ENST00000442278.6:c.319+8_319+11del	ENSP00000395683.2:n.319+8_319+11del
ENST00000447952.6:c.529+8_529+11del	ENSP00000391354.2:n.529+8_529+11del
ENST00000452202.5:c.346+8_346+11del	ENSP00000406121.1:n.346+8_346+11del
ENST00000452323.6:c.346+8_346+11del	ENSP00000392322.2:n.346+8_346+11del
ENST00000456570.5:c.529+8_529+11del	ENSP00000410815.1:n.529+8_529+11del
ENST00000469372.5:c.111+190_111+193del	ENSP00000418923.1:n.111+190_111+193del
ENST00000477310.1:c.443-3346_443-3343del	ENSP00000418996.1:n.443-3346_443-3343del
ENST00000482060.5:c.*428+8_*428+11del	ENSP00000418332.1:n.*428+8_*428+11del
ENST00000484636.1:c.210+8_210+11del	ENSP00000420305.1:n.210+8_210+11del
ENST00000494905.1:c.292+8_292+11del	ENSP00000419048.1:n.292+8_292+11del
ENST00000497706.5:c.210+8_210+11del	ENSP00000417482.1:n.210+8_210+11del
NM_000063.5:c.715+8_715+11del	NP_000054.2:n.715+8_715+11del
NM_001145903.2:c.319+8_319+11del	NP_001139375.1:n.319+8_319+11del
NM_001178063.2:c.346+8_346+11del	NP_001171534.1:n.346+8_346+11del
NM_001282457.1:c.111+190_111+193del	NP_001269386.1:n.111+190_111+193del
NM_001282458.1:c.628+8_628+11del	NP_001269387.1:n.628+8_628+11del
NM_001282459.1:c.715+8_715+11del	NP_001269388.1:n.715+8_715+11del
NM_000063.6:c.715+8_715+11del MANE Select	NP_000054.2:n.715+8_715+11del
NM_001145903.3:c.319+8_319+11del	NP_001139375.1:n.319+8_319+11del
NM_001282457.2:c.111+190_111+193del	NP_001269386.1:n.111+190_111+193del
NM_001282458.2:c.628+8_628+11del	NP_001269387.1:n.628+8_628+11del
NM_001282459.2:c.715+8_715+11del	NP_001269388.1:n.715+8_715+11del
NM_001178063.3:c.346+8_346+11del	NP_001171534.1:n.346+8_346+11del