Canonical Allele Identifier: CA363376273

Gene: C2

Linked Data

• gnomAD v4: 6-31943066-A-G
• MyVariant Identifiers: chr6:g.31910843A>G (hg19) ; chr6:g.31943066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943066A>G , CM000668.2:g.31943066A>G	GRCh38
NC_000006.11:g.31910843A>G , CM000668.1:g.31910843A>G	GRCh37
NC_000006.10:g.32018822A>G	NCBI36
NG_008191.1:g.2123A>G , LRG_136:g.2123A>G
NG_011730.1:g.20578A>G , LRG_26:g.20578A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.1141A>G	ENSP00000391354.3:p.Lys381Glu
ENST00000452323.7:c.685A>G	ENSP00000392322.2:p.Lys229Glu
ENST00000468407.2:c.1327A>G	ENSP00000512075.1:p.Lys443Glu
ENST00000497706.6:c.688A>G	ENSP00000417482.2:p.Lys230Glu
ENST00000695637.1:c.922A>G	ENSP00000512074.1:p.Lys308Glu
ENST00000695638.1:c.1327A>G	ENSP00000512076.1:p.Lys443Glu
ENST00000695644.1:c.931A>G	ENSP00000512079.1:p.Lys311Glu
ENST00000695645.1:n.697A>G
ENST00000695646.1:n.799A>G
ENST00000299367.10:c.1327A>G MANE Select	ENSP00000299367.5:p.Lys443Glu
ENST00000299367.9:c.1327A>G	ENSP00000299367.5:p.Lys443Glu
ENST00000383177.7:c.648A>G
ENST00000442278.6:c.931A>G	ENSP00000395683.2:p.Lys311Glu
ENST00000452323.6:c.685A>G	ENSP00000392322.2:p.Lys229Glu
ENST00000456570.5:c.868A>G	ENSP00000410815.1:p.Lys290Glu
ENST00000469372.5:c.589A>G	ENSP00000418923.1:p.Lys197Glu
ENST00000477310.1:c.674-159A>G	ENSP00000418996.1:n.674-159A>G
ENST00000482060.5:c.*1040A>G	ENSP00000418332.1:n.*1040A>G
ENST00000485690.5:c.539A>G
ENST00000486124.5:n.1603A>G
ENST00000497706.5:c.688A>G	ENSP00000417482.1:p.Lys230Glu
NM_000063.5:c.1327A>G	NP_000054.2:p.Lys443Glu
NM_001145903.2:c.931A>G	NP_001139375.1:p.Lys311Glu
NM_001178063.2:c.685A>G	NP_001171534.1:p.Lys229Glu
NM_001282457.1:c.589A>G	NP_001269386.1:p.Lys197Glu
NM_001282458.1:c.1240A>G	NP_001269387.1:p.Lys414Glu
NM_000063.6:c.1327A>G MANE Select	NP_000054.2:p.Lys443Glu
NM_001145903.3:c.931A>G	NP_001139375.1:p.Lys311Glu
NM_001282457.2:c.589A>G	NP_001269386.1:p.Lys197Glu
NM_001282458.2:c.1240A>G	NP_001269387.1:p.Lys414Glu
NM_001178063.3:c.685A>G	NP_001171534.1:p.Lys229Glu