Canonical Allele Identifier: CA2678069547

Gene: C2

Linked Data

• gnomAD v4: 6-31933815-TCGGCACACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933820_31933828del , CM000668.2:g.31933820_31933828del	GRCh38
NC_000006.11:g.31901597_31901605del , CM000668.1:g.31901597_31901605del	GRCh37
NC_000006.10:g.32009576_32009584del	NCBI36
NG_011730.1:g.11332_11340del , LRG_26:g.11332_11340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.430+37_431-39del	ENSP00000391354.3:n.430+37_431-39del
ENST00000452323.7:c.247+37_248-39del	ENSP00000392322.2:n.247+37_248-39del
ENST00000468407.2:c.616+37_617-39del	ENSP00000512075.1:n.616+37_617-39del
ENST00000497706.6:c.111+37_112-39del	ENSP00000417482.2:n.111+37_112-39del
ENST00000695637.1:c.211+37_212-39del	ENSP00000512074.1:n.211+37_212-39del
ENST00000695638.1:c.616+37_617-39del	ENSP00000512076.1:n.616+37_617-39del
ENST00000695639.1:n.373_381del
ENST00000695640.1:n.508_516del
ENST00000695644.1:c.220+37_221-39del	ENSP00000512079.1:n.220+37_221-39del
ENST00000299367.10:c.616+37_617-39del MANE Select	ENSP00000299367.5:n.616+37_617-39del
ENST00000299367.9:c.616+37_617-39del	ENSP00000299367.5:n.616+37_617-39del
ENST00000383177.7:c.210+37_211-39del
ENST00000411571.6:c.111+37_112-39del	ENSP00000388727.2:n.111+37_112-39del
ENST00000418949.6:c.616+37_617-39del	ENSP00000406190.2:n.616+37_617-39del
ENST00000442278.6:c.220+37_221-39del	ENSP00000395683.2:n.220+37_221-39del
ENST00000447952.6:c.430+37_431-39del	ENSP00000391354.2:n.430+37_431-39del
ENST00000452202.5:c.247+37_248-39del	ENSP00000406121.1:n.247+37_248-39del
ENST00000452323.6:c.247+37_248-39del	ENSP00000392322.2:n.247+37_248-39del
ENST00000456570.5:c.430+37_431-39del	ENSP00000410815.1:n.430+37_431-39del
ENST00000469372.5:c.111+37_111+45del	ENSP00000418923.1:n.111+37_111+45del
ENST00000477310.1:c.443-3499_443-3491del	ENSP00000418996.1:n.443-3499_443-3491del
ENST00000482060.5:c.*329+37_*330-39del	ENSP00000418332.1:n.*329+37_*330-39del
ENST00000484636.1:c.111+37_112-39del	ENSP00000420305.1:n.111+37_112-39del
ENST00000494905.1:c.193+37_194-39del	ENSP00000419048.1:n.193+37_194-39del
ENST00000497706.5:c.111+37_112-39del	ENSP00000417482.1:n.111+37_112-39del
NM_000063.5:c.616+37_617-39del	NP_000054.2:n.616+37_617-39del
NM_001145903.2:c.220+37_221-39del	NP_001139375.1:n.220+37_221-39del
NM_001178063.2:c.247+37_248-39del	NP_001171534.1:n.247+37_248-39del
NM_001282457.1:c.111+37_111+45del	NP_001269386.1:n.111+37_111+45del
NM_001282458.1:c.529+37_530-39del	NP_001269387.1:n.529+37_530-39del
NM_001282459.1:c.616+37_617-39del	NP_001269388.1:n.616+37_617-39del
NM_000063.6:c.616+37_617-39del MANE Select	NP_000054.2:n.616+37_617-39del
NM_001145903.3:c.220+37_221-39del	NP_001139375.1:n.220+37_221-39del
NM_001282457.2:c.111+37_111+45del	NP_001269386.1:n.111+37_111+45del
NM_001282458.2:c.529+37_530-39del	NP_001269387.1:n.529+37_530-39del
NM_001282459.2:c.616+37_617-39del	NP_001269388.1:n.616+37_617-39del
NM_001178063.3:c.247+37_248-39del	NP_001171534.1:n.247+37_248-39del