Canonical Allele Identifier: CA2678069508

Gene: C2

Linked Data

• gnomAD v4: 6-31933717-ACGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933718_31933722del , CM000668.2:g.31933718_31933722del	GRCh38
NC_000006.11:g.31901495_31901499del , CM000668.1:g.31901495_31901499del	GRCh37
NC_000006.10:g.32009474_32009478del	NCBI36
NG_011730.1:g.11230_11234del , LRG_26:g.11230_11234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.365_369del	ENSP00000391354.3:p.Thr122IlefsTer26
ENST00000452323.7:c.182_186del	ENSP00000392322.2:p.Thr61IlefsTer26
ENST00000468407.2:c.551_555del	ENSP00000512075.1:p.Thr184IlefsTer26
ENST00000497706.6:c.46_50del	ENSP00000417482.2:p.Arg16SerfsTer?
ENST00000695637.1:c.146_150del	ENSP00000512074.1:p.Thr49IlefsTer26
ENST00000695638.1:c.551_555del	ENSP00000512076.1:p.Thr184IlefsTer26
ENST00000695639.1:n.271_275del
ENST00000695640.1:n.406_410del
ENST00000695644.1:c.155_159del	ENSP00000512079.1:p.Thr52IlefsTer26
ENST00000299367.10:c.551_555del MANE Select	ENSP00000299367.5:p.Thr184IlefsTer26
ENST00000299367.9:c.551_555del	ENSP00000299367.5:p.Thr184IlefsTer26
ENST00000383177.7:c.145_149del
ENST00000411571.6:c.46_50del	ENSP00000388727.2:p.Arg16SerfsTer?
ENST00000418949.6:c.551_555del	ENSP00000406190.2:p.Thr184IlefsTer26
ENST00000442278.6:c.155_159del	ENSP00000395683.2:p.Thr52IlefsTer26
ENST00000447952.6:c.365_369del	ENSP00000391354.2:p.Thr122IlefsTer26
ENST00000452202.5:c.182_186del	ENSP00000406121.1:p.Thr61IlefsTer26
ENST00000452323.6:c.182_186del	ENSP00000392322.2:p.Thr61IlefsTer26
ENST00000456570.5:c.365_369del	ENSP00000410815.1:p.Thr122IlefsTer26
ENST00000469372.5:c.46_50del	ENSP00000418923.1:p.Arg16SerfsTer25
ENST00000477310.1:c.443-3601_443-3597del	ENSP00000418996.1:n.443-3601_443-3597del
ENST00000482060.5:c.*264_*268del	ENSP00000418332.1:n.*264_*268del
ENST00000484636.1:c.46_50del	ENSP00000420305.1:p.Arg16SerfsTer?
ENST00000494905.1:c.128_132del	ENSP00000419048.1:p.Thr43IlefsTer26
ENST00000497706.5:c.46_50del	ENSP00000417482.1:p.Arg16SerfsTer?
NM_000063.5:c.551_555del	NP_000054.2:p.Thr184IlefsTer26
NM_001145903.2:c.155_159del	NP_001139375.1:p.Thr52IlefsTer26
NM_001178063.2:c.182_186del	NP_001171534.1:p.Thr61IlefsTer26
NM_001282457.1:c.46_50del	NP_001269386.1:p.Arg16SerfsTer25
NM_001282458.1:c.464_468del	NP_001269387.1:p.Thr155IlefsTer26
NM_001282459.1:c.551_555del	NP_001269388.1:p.Thr184IlefsTer26
NM_000063.6:c.551_555del MANE Select	NP_000054.2:p.Thr184IlefsTer26
NM_001145903.3:c.155_159del	NP_001139375.1:p.Thr52IlefsTer26
NM_001282457.2:c.46_50del	NP_001269386.1:p.Arg16SerfsTer25
NM_001282458.2:c.464_468del	NP_001269387.1:p.Thr155IlefsTer26
NM_001282459.2:c.551_555del	NP_001269388.1:p.Thr184IlefsTer26
NM_001178063.3:c.182_186del	NP_001171534.1:p.Thr61IlefsTer26