Canonical Allele Identifier: CA1619370697

Gene: C2 C2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31936027G= , CM000668.2:g.31936027G=	GRCh38
NC_000006.11:g.31903804G= , CM000668.1:g.31903804G=	GRCh37
NC_000006.10:g.32011783G=	NCBI36
NG_011730.1:g.13539G= , LRG_26:g.13539G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000063.6:c.954G= (C2) MANE Select	NP_000054.2:p.Glu318=
ENST00000299367.10:c.954G= (C2) MANE Select	ENSP00000299367.5:p.Glu318=
NM_000063.5:c.954G= (C2)	NP_000054.2:p.Glu318=
NM_001145903.2:c.558G= (C2)	NP_001139375.1:p.Glu186=
NM_001145903.3:c.558G= (C2)	NP_001139375.1:p.Glu186=
NM_001178063.2:c.347-1292G= (C2)	NP_001171534.1:n.347-1292G=
NM_001178063.3:c.347-1292G= (C2)	NP_001171534.1:n.347-1292G=
NM_001282457.1:c.216G= (C2)	NP_001269386.1:p.Glu72=
NM_001282457.2:c.216G= (C2)	NP_001269386.1:p.Glu72=
NM_001282458.1:c.867G= (C2)	NP_001269387.1:p.Glu289=
NM_001282458.2:c.867G= (C2)	NP_001269387.1:p.Glu289=
NR_104191.1:n.541-625C= (C2-AS1)
ENST00000299367.9:c.954G= (C2)	ENSP00000299367.5:p.Glu318=
ENST00000383177.7:c.310-1292G= (C2)
ENST00000411571.6:c.*194G= (C2)	ENSP00000388727.2:n.*194G=
ENST00000442278.6:c.558G= (C2)	ENSP00000395683.2:p.Glu186=
ENST00000447952.7:c.768G= (C2)	ENSP00000391354.3:p.Glu256=
ENST00000452323.6:c.347-1292G= (C2)	ENSP00000392322.2:n.347-1292G=
ENST00000452323.7:c.347-1292G= (C2)	ENSP00000392322.2:n.347-1292G=
ENST00000456570.5:c.530-1292G=	ENSP00000410815.1:n.530-1292G=
ENST00000468407.2:c.954G= (C2)	ENSP00000512075.1:p.Glu318=
ENST00000469372.5:c.216G= (C2)	ENSP00000418923.1:p.Glu72=
ENST00000477310.1:c.443-1292G=	ENSP00000418996.1:n.443-1292G=
ENST00000482060.5:c.*667G= (C2)	ENSP00000418332.1:n.*667G=
ENST00000485690.5:c.122G= (C2)
ENST00000497706.5:c.315G= (C2)	ENSP00000417482.1:p.Glu105=
ENST00000497706.6:c.315G= (C2)	ENSP00000417482.2:p.Glu105=
ENST00000695637.1:c.549G= (C2)	ENSP00000512074.1:p.Glu183=
ENST00000695638.1:c.954G= (C2)	ENSP00000512076.1:p.Glu318=
ENST00000695644.1:c.558G= (C2)	ENSP00000512079.1:p.Glu186=