Canonical Allele Identifier: CA2678069831

Gene: C2

Linked Data

• gnomAD v4: 6-31934293-GGACAGGGTCAGGAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31934294_31934308del , CM000668.2:g.31934294_31934308del	GRCh38
NC_000006.11:g.31902071_31902085del , CM000668.1:g.31902071_31902085del	GRCh37
NC_000006.10:g.32010050_32010064del	NCBI36
NG_011730.1:g.11806_11820del , LRG_26:g.11806_11820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.658_663+9del
ENST00000452323.7:c.346+329_346+343del	ENSP00000392322.2:n.346+329_346+343del
ENST00000468407.2:c.844_849+9del
ENST00000497706.6:c.210+329_210+343del	ENSP00000417482.2:n.210+329_210+343del
ENST00000695637.1:c.439_444+9del
ENST00000695638.1:c.844_849+9del
ENST00000695644.1:c.448_453+9del
ENST00000299367.10:c.844_849+9del
ENST00000299367.9:c.844_849+9del
ENST00000383177.7:c.309+329_309+343del
ENST00000411571.6:c.*84_*89+9del
ENST00000418949.6:c.844_858del	ENSP00000406190.2:p.Asp282_Asn286del
ENST00000442278.6:c.448_453+9del
ENST00000452323.6:c.346+329_346+343del	ENSP00000392322.2:n.346+329_346+343del
ENST00000456570.5:c.529+329_529+343del	ENSP00000410815.1:n.529+329_529+343del
ENST00000469372.5:c.111+511_111+525del	ENSP00000418923.1:n.111+511_111+525del
ENST00000477310.1:c.443-3025_443-3011del	ENSP00000418996.1:n.443-3025_443-3011del
ENST00000482060.5:c.*557_*562+9del
ENST00000484636.1:c.*84_*89+9del
ENST00000485690.5:c.12_17+9del
ENST00000497706.5:c.210+329_210+343del	ENSP00000417482.1:n.210+329_210+343del
NM_000063.5:c.844_849+9del
NM_001145903.2:c.448_453+9del
NM_001178063.2:c.346+329_346+343del	NP_001171534.1:n.346+329_346+343del
NM_001282457.1:c.111+511_111+525del	NP_001269386.1:n.111+511_111+525del
NM_001282458.1:c.757_762+9del
NM_001282459.1:c.844_858del	NP_001269388.1:p.Asp282_Asn286del
NM_000063.6:c.844_849+9del
NM_001145903.3:c.448_453+9del
NM_001282457.2:c.111+511_111+525del	NP_001269386.1:n.111+511_111+525del
NM_001282458.2:c.757_762+9del
NM_001282459.2:c.844_858del	NP_001269388.1:p.Asp282_Asn286del
NM_001178063.3:c.346+329_346+343del	NP_001171534.1:n.346+329_346+343del