Canonical Allele Identifier: CA10626596

Gene: C2

Linked Data

• ClinVar Variation Id: 356241
• ClinVar RCV Id: RCV000279443 ; RCV000332101
• dbSNP Id: rs776263411
• MyVariant Identifiers: chr6:g.31895493C>A (hg19) ; chr6:g.31927716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31927716C>A , CM000668.2:g.31927716C>A	GRCh38
NC_000006.11:g.31895493C>A , CM000668.1:g.31895493C>A	GRCh37
NC_000006.10:g.32003472C>A	NCBI36
NG_011730.1:g.5228C>A , LRG_26:g.5228C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.-37C>A	ENSP00000391354.3:n.-37C>A
ENST00000452323.7:c.74-5894C>A	ENSP00000392322.2:n.74-5894C>A
ENST00000497706.6:c.-63-5894C>A	ENSP00000417482.2:n.-63-5894C>A
ENST00000695637.1:c.-359-239C>A	ENSP00000512074.1:n.-359-239C>A
ENST00000299367.9:c.-37C>A	ENSP00000299367.5:n.-37C>A
ENST00000411571.6:c.-63-5894C>A	ENSP00000388727.2:n.-63-5894C>A
ENST00000413154.5:c.-37C>A	ENSP00000403325.1:n.-37C>A
ENST00000418949.6:c.-37C>A	ENSP00000406190.2:n.-37C>A
ENST00000442278.6:c.-37C>A	ENSP00000395683.2:n.-37C>A
ENST00000447952.6:c.-37C>A	ENSP00000391354.2:n.-37C>A
ENST00000452202.5:c.74-5894C>A	ENSP00000406121.1:n.74-5894C>A
ENST00000452323.6:c.74-5894C>A	ENSP00000392322.2:n.74-5894C>A
ENST00000456570.5:c.-37C>A	ENSP00000410815.1:n.-37C>A
ENST00000469372.5:c.-63-5894C>A	ENSP00000418923.1:n.-63-5894C>A
ENST00000484636.1:c.-63-5894C>A	ENSP00000420305.1:n.-63-5894C>A
ENST00000497706.5:c.-63-5894C>A	ENSP00000417482.1:n.-63-5894C>A
NM_000063.5:c.-37C>A	NP_000054.2:n.-37C>A
NM_001145903.2:c.-37C>A	NP_001139375.1:n.-37C>A
NM_001178063.2:c.74-5894C>A	NP_001171534.1:n.74-5894C>A
NM_001282457.1:c.-63-5894C>A	NP_001269386.1:n.-63-5894C>A
NM_001282458.1:c.-152C>A	NP_001269387.1:n.-152C>A
NM_001282459.1:c.-37C>A	NP_001269388.1:n.-37C>A
NM_001282457.2:c.-63-5894C>A	NP_001269386.1:n.-63-5894C>A
NM_001178063.3:c.74-5894C>A	NP_001171534.1:n.74-5894C>A