Canonical Allele Identifier: CA1619373329

Gene: C2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943060_31943062delinsGAC , CM000668.2:g.31943060_31943062delinsGAC	GRCh38
NC_000006.11:g.31910837_31910839delinsGAC , CM000668.1:g.31910837_31910839delinsGAC	GRCh37
NC_000006.10:g.32018816_32018818delinsGAC	NCBI36
NG_008191.1:g.2117_2119delinsGAC , LRG_136:g.2117_2119delinsGAC
NG_011730.1:g.20572_20574delinsGAC , LRG_26:g.20572_20574delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.1135_1137delinsGAC	ENSP00000391354.3:p.Asp379=
ENST00000452323.7:c.679_681delinsGAC	ENSP00000392322.2:p.Asp227=
ENST00000468407.2:c.1321_1323delinsGAC	ENSP00000512075.1:p.Asp441=
ENST00000497706.6:c.682_684delinsGAC	ENSP00000417482.2:p.Asp228=
ENST00000695637.1:c.916_918delinsGAC	ENSP00000512074.1:p.Asp306=
ENST00000695638.1:c.1321_1323delinsGAC	ENSP00000512076.1:p.Asp441=
ENST00000695644.1:c.925_927delinsGAC	ENSP00000512079.1:p.Asp309=
ENST00000695645.1:n.691_693delinsGAC
ENST00000695646.1:n.793_795delinsGAC
ENST00000299367.10:c.1321_1323delinsGAC MANE Select	ENSP00000299367.5:p.Asp441=
ENST00000299367.9:c.1321_1323delinsGAC	ENSP00000299367.5:p.Asp441=
ENST00000383177.7:c.642_644delinsGAC
ENST00000442278.6:c.925_927delinsGAC	ENSP00000395683.2:p.Asp309=
ENST00000452323.6:c.679_681delinsGAC	ENSP00000392322.2:p.Asp227=
ENST00000456570.5:c.862_864delinsGAC	ENSP00000410815.1:p.Asp288=
ENST00000469372.5:c.583_585delinsGAC	ENSP00000418923.1:p.Asp195=
ENST00000477310.1:c.674-165_674-163delinsGAC	ENSP00000418996.1:n.674-165_674-163delins...
ENST00000482060.5:c.*1034_*1036delinsGAC	ENSP00000418332.1:n.*1034_*1036delinsGAC
ENST00000485690.5:c.533_535delinsGAC
ENST00000486124.5:n.1597_1599delinsGAC
ENST00000497706.5:c.682_684delinsGAC	ENSP00000417482.1:p.Asp228=
NM_000063.5:c.1321_1323delinsGAC	NP_000054.2:p.Asp441=
NM_001145903.2:c.925_927delinsGAC	NP_001139375.1:p.Asp309=
NM_001178063.2:c.679_681delinsGAC	NP_001171534.1:p.Asp227=
NM_001282457.1:c.583_585delinsGAC	NP_001269386.1:p.Asp195=
NM_001282458.1:c.1234_1236delinsGAC	NP_001269387.1:p.Asp412=
NM_000063.6:c.1321_1323delinsGAC MANE Select	NP_000054.2:p.Asp441=
NM_001145903.3:c.925_927delinsGAC	NP_001139375.1:p.Asp309=
NM_001282457.2:c.583_585delinsGAC	NP_001269386.1:p.Asp195=
NM_001282458.2:c.1234_1236delinsGAC	NP_001269387.1:p.Asp412=
NM_001178063.3:c.679_681delinsGAC	NP_001171534.1:p.Asp227=