Canonical Allele Identifier: CA363376245

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31910838A>G (hg19) ; chr6:g.31943061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943061A>G , CM000668.2:g.31943061A>G	GRCh38
NC_000006.11:g.31910838A>G , CM000668.1:g.31910838A>G	GRCh37
NC_000006.10:g.32018817A>G	NCBI36
NG_008191.1:g.2118A>G , LRG_136:g.2118A>G
NG_011730.1:g.20573A>G , LRG_26:g.20573A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.1136A>G	ENSP00000391354.3:p.Asp379Gly
ENST00000452323.7:c.680A>G	ENSP00000392322.2:p.Asp227Gly
ENST00000468407.2:c.1322A>G	ENSP00000512075.1:p.Asp441Gly
ENST00000497706.6:c.683A>G	ENSP00000417482.2:p.Asp228Gly
ENST00000695637.1:c.917A>G	ENSP00000512074.1:p.Asp306Gly
ENST00000695638.1:c.1322A>G	ENSP00000512076.1:p.Asp441Gly
ENST00000695644.1:c.926A>G	ENSP00000512079.1:p.Asp309Gly
ENST00000695645.1:n.692A>G
ENST00000695646.1:n.794A>G
ENST00000299367.10:c.1322A>G MANE Select	ENSP00000299367.5:p.Asp441Gly
ENST00000299367.9:c.1322A>G	ENSP00000299367.5:p.Asp441Gly
ENST00000383177.7:c.643A>G
ENST00000442278.6:c.926A>G	ENSP00000395683.2:p.Asp309Gly
ENST00000452323.6:c.680A>G	ENSP00000392322.2:p.Asp227Gly
ENST00000456570.5:c.863A>G	ENSP00000410815.1:p.Asp288Gly
ENST00000469372.5:c.584A>G	ENSP00000418923.1:p.Asp195Gly
ENST00000477310.1:c.674-164A>G	ENSP00000418996.1:n.674-164A>G
ENST00000482060.5:c.*1035A>G	ENSP00000418332.1:n.*1035A>G
ENST00000485690.5:c.534A>G
ENST00000486124.5:n.1598A>G
ENST00000497706.5:c.683A>G	ENSP00000417482.1:p.Asp228Gly
NM_000063.5:c.1322A>G	NP_000054.2:p.Asp441Gly
NM_001145903.2:c.926A>G	NP_001139375.1:p.Asp309Gly
NM_001178063.2:c.680A>G	NP_001171534.1:p.Asp227Gly
NM_001282457.1:c.584A>G	NP_001269386.1:p.Asp195Gly
NM_001282458.1:c.1235A>G	NP_001269387.1:p.Asp412Gly
NM_000063.6:c.1322A>G MANE Select	NP_000054.2:p.Asp441Gly
NM_001145903.3:c.926A>G	NP_001139375.1:p.Asp309Gly
NM_001282457.2:c.584A>G	NP_001269386.1:p.Asp195Gly
NM_001282458.2:c.1235A>G	NP_001269387.1:p.Asp412Gly
NM_001178063.3:c.680A>G	NP_001171534.1:p.Asp227Gly