Canonical Allele Identifier: CA363368243

Gene: C2

Linked Data

• ClinVar Variation Id: 1345600
• ClinVar RCV Id: RCV002037411
• dbSNP Id: rs2151754946
• MyVariant Identifiers: chr6:g.31902071G>C (hg19) ; chr6:g.31934294G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31934294G>C , CM000668.2:g.31934294G>C	GRCh38
NC_000006.11:g.31902071G>C , CM000668.1:g.31902071G>C	GRCh37
NC_000006.10:g.32010050G>C	NCBI36
NG_011730.1:g.11806G>C , LRG_26:g.11806G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.658G>C	ENSP00000391354.3:p.Asp220His
ENST00000452323.7:c.346+329G>C	ENSP00000392322.2:n.346+329G>C
ENST00000468407.2:c.844G>C	ENSP00000512075.1:p.Asp282His
ENST00000497706.6:c.210+329G>C	ENSP00000417482.2:n.210+329G>C
ENST00000695637.1:c.439G>C	ENSP00000512074.1:p.Asp147His
ENST00000695638.1:c.844G>C	ENSP00000512076.1:p.Asp282His
ENST00000695644.1:c.448G>C	ENSP00000512079.1:p.Asp150His
ENST00000299367.10:c.844G>C MANE Select	ENSP00000299367.5:p.Asp282His
ENST00000299367.9:c.844G>C	ENSP00000299367.5:p.Asp282His
ENST00000383177.7:c.309+329G>C
ENST00000411571.6:c.*84G>C	ENSP00000388727.2:n.*84G>C
ENST00000418949.6:c.844G>C	ENSP00000406190.2:p.Asp282His
ENST00000442278.6:c.448G>C	ENSP00000395683.2:p.Asp150His
ENST00000452202.5:c.475G>C
ENST00000452323.6:c.346+329G>C	ENSP00000392322.2:n.346+329G>C
ENST00000456570.5:c.529+329G>C	ENSP00000410815.1:n.529+329G>C
ENST00000469372.5:c.111+511G>C	ENSP00000418923.1:n.111+511G>C
ENST00000477310.1:c.443-3025G>C	ENSP00000418996.1:n.443-3025G>C
ENST00000482060.5:c.*557G>C	ENSP00000418332.1:n.*557G>C
ENST00000484636.1:c.*84G>C	ENSP00000420305.1:n.*84G>C
ENST00000485690.5:c.12G>C
ENST00000497706.5:c.210+329G>C	ENSP00000417482.1:n.210+329G>C
NM_000063.5:c.844G>C	NP_000054.2:p.Asp282His
NM_001145903.2:c.448G>C	NP_001139375.1:p.Asp150His
NM_001178063.2:c.346+329G>C	NP_001171534.1:n.346+329G>C
NM_001282457.1:c.111+511G>C	NP_001269386.1:n.111+511G>C
NM_001282458.1:c.757G>C	NP_001269387.1:p.Asp253His
NM_001282459.1:c.844G>C	NP_001269388.1:p.Asp282His
NM_000063.6:c.844G>C MANE Select	NP_000054.2:p.Asp282His
NM_001145903.3:c.448G>C	NP_001139375.1:p.Asp150His
NM_001282457.2:c.111+511G>C	NP_001269386.1:n.111+511G>C
NM_001282458.2:c.757G>C	NP_001269387.1:p.Asp253His
NM_001282459.2:c.844G>C	NP_001269388.1:p.Asp282His
NM_001178063.3:c.346+329G>C	NP_001171534.1:n.346+329G>C